MCADD (Medium-Chain Acyl-CoA Dehydrogenase Deficiency)

Guidance on diagnosing and managing children with MCADD
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a type of fatty acid oxidation disorder caused by a defect in the catabolism of medium-chain fatty acids. Fatty acid B-oxidation fuels hepatic ketogenesis, a major energy source after glycogen stores have been depleted. Impaired MCAD activity results in hypoketotic hypoglycemia during prolonged fasting or increased energy demands (e.g., acute illness or fever). Individuals with MCADD are usually diagnosed through newborn screening or after showing symptoms, which can occur at any age.

Other Names

ACADM deficiency
MCAD deficiency
Medium-chain acyl-CoA dehydrogenase deficiency

Key Points

Response to a positive newborn screen for MCADD
If notified of a positive newborn test result for MCADD, the medical home should collaborate with a metabolic geneticist who will help verify the test result and follow through with appropriate care and education for the patient and the family. Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) details initial steps for confirming the diagnosis and immediate management.
Acute attacks can progress rapidly
Acute decompensation is more common during acute illness, fasting, or other times of metabolic stress. Management revolves around fasting avoidance and prompt treatment of acute episodes with intravenous (IV) glucose. [Feillet: 2012] [Potter: 2012] If untreated, acute attacks of hypoglycemia can rapidly progress to seizures, coma, and sudden death.
Atypical ketones are found in some individuals
Although nonketotic hypoglycemia is a hallmark presentation, some affected individuals can generate some ketones.
Avoid alcohol consumption
Adolescents and adults with MCADD should be counseled about the possible risks of excessive consumption of alcohol, which may include encephalopathy, rhabdomyolysis, and cardiac failure. [Lang: 2009]
Emergency treatment letter needed
All families who have a child with MCADD should have an emergency treatment letter that can be presented at the emergency room in case of illness. A medical alert bracelet or necklace also can be worn to let providers know that the child has MCADD, but it is not a substitution for the emergency letter. See Sample Letter for Emergency Care for the Child with MCADD (Medical Home Portal) (Word Document 14 KB).
Management during an acute illness
Children with MCADD who are ill require early evaluation and intervention. During an acute illness, any form of tolerable caloric intake is necessary (e.g., juice, Gatorade, and Powerade). If unable to tolerate oral intake, dextrose-containing IV fluids should be administered to maintain normoglycemia. Occasionally, uncooked cornstarch (1-1½ g/kg) may be recommended by a metabolic provider as a preventative measure for infants and young children. Levocarnitine (50 mg/kg/day) supplementation may also be recommended if experiencing a secondary deficiency.
Home glucose monitoring may be unreliable
Hypoglycemia occurs after the onset of clinical symptoms and is an unreliable marker for early decompensation or encephalopathy. Therefore, families should speak with their metabolic provider about the usefulness of home glucose monitoring for them. [Leonard: 2009]
Fasting at any age can lead to acute attacks
Although fasting tolerance improves with age, prolonged fasting in an affected individual can lead to coma and death at any age. Patients should be counseled to remain hydrated and consume additional calories during prolonged physical activity.

Practice Guidelines

No published guidelines exist for the diagnosis or management of MCADD.



Individuals with MCADD can present at any age, although acute decompensation is thought to be more common between 3-15 months of age. With age, fasting tolerance improves and the risk for decompensation decreases. Nonetheless, it is a life-long condition and the risk will always be present. [Lang: 2009] [Schatz: 2010]

Affected individuals may be asymptomatic until placed under the right amount of metabolic stress. The clinical presentation is indistinguishable from other hypoglycemia causes, including clamminess, irritability, lethargy, and vomiting. They may experience intermittent symptoms after periods of fasting or intercurrent illnesses. Less often, liver disease and hepatomegaly may be presenting features.
Special attention should be given to clinical symptoms of decreased oral intake, vomiting, diarrhea, fever, and level of alertness. Ask about interim health problems. Although medical history may be uninformative, undiagnosed children and adolescents may have had recurrent episodes of nausea, vomiting, or listlessness after long periods of fasting.

Diagnostic Criteria and Classifications

The essential features of diagnosis are:
  • Positive findings on expanded newborn screening
  • Nonketotic hypoglycemia
  • Elevations of C8, C6, C10, C10:1 acylcarnitines
  • Elevations of urinary dicarboxylic acids, hexanoylglycine, suberylglycine, and cis-4-decenoic acid
  • DNA testing identifying the common A985G variant and/or other pathogenic variants in the ACADM gene
If clinical and biochemical findings are consistent with the diagnosis and no causative variant in ACADM is identified, then sequencing of the entire gene or fatty acid oxidation studies in fibroblasts may be necessary to confirm the diagnosis.

Screening & Diagnostic Testing

Laboratory Testing

MCADD is included in all US states’ expanded newborn screening panes. With expanded newborn screening, the diagnosis is suspected when elevations of C8, C6, and C10:1 are seen on tandem mass spectrometry. Follow-up confirmatory testing typically includes:
  • Plasma acylcarnitine analysis with elevations of C8, C6, C10, C10:1
  • Urine organic acids with elevations of hexanoylglycine, octanoylglycine, decanoylglycine; may also see elevated dicarboxylic acids adipic, suberic, sebacic, and dodecanedioic
  • Urine acylglycine with elevations of n-hexanoylglycine, 3-phenylpropionylglycine, and suberylglycine

Genetic Testing

DNA testing of the ACADM gene should be done to confirm the diagnosis. Though the A985G variant is most common, sequencing of the entire gene is recommended.
Analysis of fatty acid beta-oxidation in cultured fibroblasts or MCAD enzyme activity in leukocytes, fibroblasts, liver, heart, or skeletal muscle can be used to confirm a diagnosis that remains in question either due to the absence of ACADM variants or variants of uncertain significance. [Alcaide: 2022]

Testing for Family Members

If a patient is confirmed to have MCADD, then it is assumed that both parents are carriers. Testing of asymptomatic siblings who have passed newborn screening in the US is not necessary. However, the family should be counseled regarding the recurrence risk for future children who can be tested at the time of birth rather than waiting for the newborn screen to return.
Prenatal diagnosis by either molecular genetic or biochemical testing is possible; however, this must be done by either amniocentesis or chorionic villus sampling (CVS). It is felt that there is no advantage to prenatal testing if prompt postnatal testing by measurement of plasma acylcarnitines and urine acylglycines is obtained in at-risk pregnancies. [Onunaku: 2005]
Pregnant women with MCADD are at increased risk of experiencing pregnancy complications such as hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome, and acute fatty liver of pregnancy (AFLP). [Browning: 2006] [Santos: 2007]

Genetics & Inheritance

MCADD is associated with variants in the ACADM gene and is inherited in an autosomal recessive manner. More than 50% of affected individuals are homozygous for the common c.985A>G variant. [Carpenter: 2001] [Zytkovicz: 2001] [Maier: 2005] This specific variant is generally considered to be more severe, with more extreme elevations in C8 levels and greater risk for hypoglycemia. [Waddell: 2006] [Arnold: 2010] [Bentler: 2016] Less common variants, such as the c.199T>C variant, tend to have a less severe biochemical phenotype. [Andresen: 1997] [Maier: 2005] [Tajima: 2005]

Parents of a child with MCADD are counseled that they have a 25% chance of having an affected baby, a 50% chance of having a baby who is a carrier, and a 25% chance of having a baby who is neither affected nor a carrier. Unaffected siblings have a 67% chance of being carriers of the disorder. All of the children of an affected individual will be, at the least, carriers. The probability of having an affected child depends on the carrier status of the other parent.


Estimates of the prevalence of MCADD in the US ranges from 1:13,000 to 1:19,000 and is most common among persons of Northern European descent. [Therrell: 2014] [Tanaka: 1997] [Chace: 2002] [Frazier: 2006] [Feuchtbaum: 2012]

Differential Diagnosis

Other fatty acid oxidation disorders
Important clinical features that might help differentiate MCADD from the other fatty acid oxidation disorders (e.g., very long-chain acyl-CoA dehydrogenase deficiency, long-chain 3-hydroxylacyl-CoA dehydrogenase deficiency, carnitine palmitoyl transferase I/II deficiencies, carnitine transporter defect, and carnitine translocase deficiency) include the absence of cardiomyopathy and/or rhabdomyolysis, which are common among these other conditions. The biochemical pattern of MCADD is very specific, though, and can be differentiated from other fatty acid oxidation disorders.

Ketogenesis defects
The ketogenesis defects often present within the first few days of life. The pattern of presentation in later childhood and some presenting symptoms, such as vomiting, decreased sensorium, and hepatomegaly, may be very similar to MCADD. Although hypoketotic hypoglycemia and sometimes hyperammonemia are biochemical features, severe ketoacidosis is the rule.

Organic acidurias
Most organic acidurias present with hyperketotic hypoglycemia rather than hypoketotic hypoglycemia.
An exception is 3-hydroxy-3-methylglutarica aciduria, a deficiency of 3-hydroxy-3methylglutaryl-CoA-lyase (HMG-CoA lyase deficiency). This enzyme is a key component in leucine metabolism and ketogenesis, and episodes may be triggered by fasting or illness. Acylcarnitine profiles and urine organic acid profiles differ from MCADD in that C5OH and C6DC-acylcarnitines are elevated in the plasma while 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric, and 3-hydroxyisovaleric acids are elevated in the urine.

Carbohydrate metabolism defects
Carbohydrate metabolism defects may present with hypoglycemia, significant lactic acidosis, +/- ketosis, and hepatomegaly. Acylcarnitine profile and urine organic acid profile will help differentiate these disorders from MCADD.

Co-occuring Conditions

Those who survive an acute episode of decompensation may develop mild to severe sequelae such as developmental disabilities, behavioral problems, cerebral palsy, chronic muscle weakness, failure to thrive, and seizures. [Derks: 2006]


Prognosis is excellent when treatment for MCADD is initiated before decompensation, including fasting avoidance and proper management during intercurrent illnesses. Prior to identification by expanded newborn screening, up to 29% of undiagnosed patients died during the first decompensation. [Lang: 2009] Those who survive an acute episode of decompensation may develop mild to severe sequelae

Treatment & Management

Management of MCADD revolves around avoidance of hypoglycemia. This can be achieved by avoiding prolonged fasting, which will become more tolerable with age, and proper management during periods of metabolic stress. Such common metabolic stressors include excess physical activity and intercurrent illnesses, especially those that cause fever or poor oral tolerance. During such illnesses, patients are generally advised to seek medical care, which will include the use of dextrose-containing IV fluids before hypoglycemia can develop. Families should be provided with an emergency letter from their metabolic provider so that care in such instances is not delayed.
There are no clear dietary guidelines, though some will recommend limiting fats to <30% of total nutritional intake. More clearly, general avoidance of medium chain triglyceride (MCT) supplements and especially infant formulas high in MCT, is advised.


Fasting avoidance
With prolonged fasting, lipolysis and hepatic fatty acid oxidation become activated. Plasma levels of free fatty acids rise, but ketones remain inappropriately low. Patients then become hypoglycemic with progressive lethargy, confusion, nausea, and vomiting. Hepatomegaly is sometimes noted. Without rapid intervention with IV glucose, hypoglycemia can rapidly progress to seizures, coma, and sudden death.

The following general guidelines are recommended, though they should be taken on a case-by-case basis and not include situations in which there is an extra metabolic stressor:
  • Infants should be fed frequently; fasting should not exceed 3 to 4 hours
  • Between 6 months and 1 year of age, fasting should not exceed 8 hours
  • Between 1 to 2 years of age, fasting should not exceed 10 hours
  • For individuals older than 2 years, fasting should not exceed 12 hours
Adding 1 to 3 tablespoons of uncooked cornstarch mixed in liquid at bedtime may improve overnight fasting tolerance. [California: 2005]
Treatment when ill
Treatment of ill patients with MCADD involves:
  • IV fluid therapy, preferably with D10 (and electrolytes per clinical discretion) at 1.5-2 x maintenance, should be given to maintain normoglycemia.
  • If a patient becomes ill, prompt administration of IV glucose is mandatory. Delay in treatment may lead to sudden death or permanent neurologic sequelae. Under no circumstances should the administration of IV glucose be delayed.
  • Oral glucose gel or other forms of simple sugars that can be absorbed by the mucus membranes may be kept available for families and used in emergency situations as a temporary solution while seeking medical care.
An emergency letter should be supplied to the family explaining this treatment. See Sample Letter for Emergency Care for the Child with MCADD (Medical Home Portal) (Word Document 14 KB).
The use of carnitine is controversial but indicated when there is a secondary carnitine deficiency. [Lee: 2005] If supplementation with carnitine is necessary, it should be initiated under the guidance of the metabolic specialist. It had been recommended that the dose of L-carnitine be 50-100 mg/kg/day.
L-carnitine is synthesized endogenously, but in patients with MCADD, levels may become depleted as it remains conjugated to accumulated medium-chain fatty acids and subsequently excreted as acylcarnitine. Some studies have shown that carnitine may improve exercise tolerance in affected adolescents and adults. Recent concerns about the effects of exogenous carnitine on gut flora and cardiac health have led to a re-evaluation of its effectiveness.
To prevent secondary carnitine deficiency, plasma-free carnitine concentration should be monitored, and supplementation should be adjusted accordingly.


Children with MCADD should follow a normal growth curve pattern. Proper daily nutrition and healthy exercise should be encouraged.
There are no clear dietary guidelines and dietary restriction is typically unnecessary, though some will recommend limiting fats to <30% of total nutritional intake. More clearly, general avoidance of medium chain triglyceride (MCT) supplements, especially infant formulas high in MCT, is advised.


Individuals with MCADD do not have cognitive impairment directly related to the deficiency. Unless indicated for another reason, no individualized educational programs are recommended other than potentially needing a snack during school or extracurricular activities to prevent hypoglycemia. However, it is important that school staff be aware that a child has MCADD in the event that the child becomes acutely ill.
Routine developmental and educational screenings, and close monitoring for sequelae following crises, are important. The Developmental Screening section of the Portal lists screening tools and provides surveillance tips.

Services & Referrals

Biochemical Genetics (Metabolics) (see ID providers [2])
Refer to a metabolic geneticist who, along with a metabolic nutritionist, will educate the family about the disorder and its treatment. If the diagnosis has not been made but is suspected, refer for testing. Periodic visits are important to support families, monitor for problems, and provide needed education. Refer if supplementation with carnitine is being considered. Consult for management of diet and if the child becomes ill.
Nutrition, Metabolic (see ID providers [13])
The nutritionist will play a critical role in formulating a healthy diet with the necessary fats, carbohydrates, proteins, vitamins, minerals, and cofactors to allow for proper growth and development.
Genetic Testing and Counseling (see ID providers [9])
Refer for assistance with genetic testing, interpretation of results, and to discuss inheritance patterns, recurrence risks, and reproductive options for the individual with MCADD and their family.
Pediatric Neurology (see ID providers [1])
Refer if indicated by clinical presentation, especially if seizures are part of the initial presentation or persistent.
Developmental - Behavioral Pediatrics (see ID providers [2])
Referral should be made if there is concern about sequelae after an acute presentation or concern about specific developmental deficits.

ICD-10 Coding

E71.311, Medium-chain acyl-CoA dehydrogenase deficiency


Information & Support

Related Portal Content
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
Immediate response to a positive newborn test result.

Developmental Screening
Screening tools and guidance on response to a positive screen.

Formulas andFormulas for Metabolic Conditions (PDF Document 138 KB)General guidance and name brads of formula.

Fatty Acid Oxidation Disorders (FAQ)
Answers to questions parent may frequently ask about their child with MCADD's care.

For Professionals

Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (GeneReviews)
Excellent review of MCADD that includes a clinical description, differential diagnoses, management information, and molecular genetic information; sponsored by the U.S. National Library of Medicine.

Guidelines for MCADD (Genetic Metabolic Dietitians International)
Extensive clinical information about nutrition therapy for MCADD. Topics include background, signs and symptoms, laboratory findings, biochemical basis of MCADD, chronic and acute management, monitoring, and special circumstances; edited by Dianne M. Frazier, PhD, MPH, RD.

For Parents and Patients

Fatty Oxidation Disorders (FOD) Family Support Group
Information for families about fatty acid oxidation disorders, support groups, coping, finances, and links to other sites.

MCADD - Information for Parents (STAR-G)
A fact sheet, written by a genetic counselor and reviewed by metabolic and genetic specialists, for families who have received an initial diagnosis of this newborn disorder; Screening, Technology and Research in Genetics.

Medium-chain acyl-CoA dehydrogenase deficiency (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

MCADD: A Guide for Parents (PacNoRGG) (PDF Document 618 KB)
Eight-page guide that includes an overview, social concerns, sample treatment plan, glossary, regional resources, and references; sponsored by the Pacific Northwest Regional Genetics Group.

MCADD: A Guide for Parents (PacNoRGG) (Spanish) (PDF Document 202 KB)
Spanish translation of an 8-page guide that includes an overview, social concerns, sample treatment plan, glossary, regional resources, and references; sponsored by the Pacific Northwest Regional Genetics Group.


Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) (NECMP) (PDF Document 17 KB)
Guideline for clinicians treating the sick infant or child who has MCADD; developed under the direction of Dr. Harvey Levy, Senior Associate in Medicine/Genetics at Children’s Hospital Boston, and Professor of Pediatrics at Harvard Medical School, for the New England Consortium of Metabolic Programs. Click pdf to view the complete protocol.

Sample Letter for Emergency Care for the Child with MCADD (Medical Home Portal) (Word Document 14 KB)
A sample letter with emergency treatment details that can be provided to families who have a child with MCADD.

Confirmatory Algorithm for MCAD Deficiency (PDF Document 170 KB)
Resource for clinicians to help confirm diagnosis; American College of Medical Genetics.

Services for Patients & Families in Idaho (ID)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.


Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Helpful Articles

PubMed search for articles about medium-chain acyl-CoA dehydrogenase deficiency (MCADD), last 5 years.

Gartner V, McGuire PJ, Lee PR.
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
Neurology. 2015;85(4):e37-40. PubMed abstract / Full Text

Gramer G, Haege G, Fang-Hoffmann J, Hoffmann GF, Bartram CR, Hinderhofer K, Burgard P, Lindner M.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
JIMD Rep. 2015;23:101-12. PubMed abstract / Full Text

Rice GM, Steiner RD.
Inborn Errors of Metabolism (Metabolic Disorders).
Pediatr Rev. 2016;37(1):3-15; quiz 16-7, 47. PubMed abstract

Schatz UA, Ensenauer R.
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
J Inherit Metab Dis. 2010. PubMed abstract

Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C.
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Arch Pediatr. 2012;19(2):184-93. PubMed abstract

Authors & Reviewers

Initial publication: June 2016; last update/revision: January 2023
Current Authors and Reviewers:
Author: Brian J. Shayota, MD, MPH
Funding: This module was developed in partnership with the Heartland Regional Genetics and Newborn Screening Collaborative and was funded in part by a Health Resources Services Administration (HRSA) cooperative agreement (U22MC03962).
Authoring history
2016: update: Laurie Smith, MD, Ph.D.SA; Natario Couser, MD, MSR
2010: update: Laurie Smith, MD, Ph.D.A
2008: first version: Holly WelshCA
AAuthor; CAContributing Author; SASenior Author; RReviewer

Page Bibliography

Alcaide P, Ferrer-López I, Gutierrez L, Leal F, Martín-Hernández E, Quijada-Fraile P, Bellusci M, Moráis A, Pedrón-Giner C, Rausell D, Correcher P, Unceta M, Stanescu S, Ugarte M, Ruiz-Sala P, Pérez B.
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
J Clin Med. 2022;11(10). PubMed abstract / Full Text

Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kølvraa S, Gregersen N.
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?.
Hum Mol Genet. 1997;6(5):695-707. PubMed abstract

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Mol Genet Metab. 2010;99(3):263-8. PubMed abstract

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA.
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Mol Genet Metab. 2016;119(1-2):75-82. PubMed abstract / Full Text

Browning MF, Levy HL, Wilkins-Haug LE, Larson C, Shih VE.
Fetal fatty acid oxidation defects and maternal liver disease in pregnancy.
Obstet Gynecol. 2006;107(1):115-20. PubMed abstract

California Department of Health Services.
Parents' Guide to MCADD.
2005; 22. Newborn Screening Program

Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B.
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Arch Dis Child Fetal Neonatal Ed. 2001;85(2):F105-9. PubMed abstract / Full Text

Chace DH, Kalas TA, Naylor EW.
The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism.
Annu Rev Genomics Hum Genet. 2002;3:17-45. PubMed abstract

Derks TG, Reijngoud DJ, Waterham HR, Gerver WJ, van den Berg MP, Sauer PJ, Smit GP.
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
J Pediatr. 2006;148(5):665-670. PubMed abstract

Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C.
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Arch Pediatr. 2012;19(2):184-93. PubMed abstract

Feuchtbaum L, Carter J, Dowray S, Currier RJ, Lorey F.
Birth prevalence of disorders detectable through newborn screening by race/ethnicity.
Genet Med. 2012;14(11):937-45. PubMed abstract

Frazier DM, Millington DS, McCandless SE, Koeberl DD, Weavil SD, Chaing SH, Muenzer J.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
J Inherit Metab Dis. 2006;29(1):76-85. PubMed abstract

Lang TF.
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
J Inherit Metab Dis. 2009;32(6):675-83. PubMed abstract

Lee PJ, Harrison EL, Jones MG, Jones S, Leonard JV, Chalmers RA.
L-carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: a pilot study.
J Inherit Metab Dis. 2005;28(2):141-52. PubMed abstract

Leonard JV, Dezateux C.
Newborn screening for medium chain acyl CoA dehydrogenase deficiency.
Arch Dis Child. 2009;94(3):235-8. PubMed abstract

Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA.
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Hum Mutat. 2005;25(5):443-52. PubMed abstract

Onunaku, Ngozi.
Improving maternal and infant mental health: focus on maternal depression.
Zero to Three. 2005. /
Discusses the impact of maternal depression on the social and emotional health of young children. Recommends specific steps that early childhood programs and public health administrators can take to address the unmet mental health needs of mothers. Ultimately promotes social and emotional health, school readiness, and the future functioning of very young children.

Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ.
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
J Inherit Metab Dis. 2012;35(1):115-23. PubMed abstract

Santos L, Patterson A, Moreea SM, Lippiatt CM, Walter J, Henderson M.
Acute liver failure in pregnancy associated with maternal MCAD deficiency.
J Inherit Metab Dis. 2007;30(1):103. PubMed abstract

Schatz UA, Ensenauer R.
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
J Inherit Metab Dis. 2010. PubMed abstract

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
J Chromatogr B Analyt Technol Biomed Life Sci. 2005;823(2):122-30. PubMed abstract

Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M.
A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Pediatr Res. 1997;41(2):201-9. PubMed abstract

Therrell BL Jr, Lloyd-Puryear MA, Camp KM, Mann MY.
Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.
Mol Genet Metab. 2014;113(1-2):14-26. PubMed abstract / Full Text

Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B.
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Mol Genet Metab. 2006;87(1):32-9. PubMed abstract

Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF.
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Clin Chem. 2001;47(11):1945-55. PubMed abstract