Endocrinology Book


MCAD Deficiency

Aka: MCAD Deficiency, Medium-Chain-Acyl-CoA-Dehydrogenase Deficiency, MCADD
  1. See Also
    1. Inborn Errors of Metabolism
  2. Epidemiology
    1. Incidence: 1:15,000 to 17,000 live births
    2. Autosomal Recessive inheritance
    3. Most common in northwestern european descendents
      1. Due to Homozygous A985G missense mutation (see below)
  3. Pathophysiology
    1. Defect in Fatty Acid oxidation
    2. A985G Missense mutation is most common cause
  4. Signs
    1. Progressive nonketotic Hypoglycemia
    2. Lethargy to coma
    3. Vomiting
    4. Seizures
    5. Encephalopathy
    6. Hepatomegaly
  5. Screening
    1. Newborn Screening
      1. Routine Newborn Screening performed at birth usually detects MCADD
  6. Labs
    1. Hypoglcemia
    2. Urine organic acids
    3. Metabolic Acidosis
    4. Hyperammonemia
    5. Acylcarnitine
    6. Genetic Testing
  7. Management
    1. Correct Hypoglycemia!
    2. Avoid Fasting state
    3. Frequent meals (low fat, high Carbohydrate) to avoid Hypoglycemia
    4. Avoid medium chain Fatty Acids (e.g. coconut oil)
    5. Careful management when ill, Vomiting
    6. Medic alert tag to notify responders in emergency
  8. Complications
    1. Sudden Infant Death Syndrome
    2. Developmental Delay
    3. Motor Delay
    4. Risk of intellectual Developmental Disability
  9. References
    1. Weismiller (2017) Am Fam Physician 95(11): 703-9 [PubMed]

Medium-chain acyl-coenzyme A dehydrogenase deficiency (C0220710)

Definition (NCI) A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.
Concepts Disease or Syndrome (T047)
MSH C536038
ICD10 E71.311
SnomedCT 393571006, 394513008, 128596003, 74351001
LNC LA12509-8
English Deficiency of medium-chain acyl-CoA dehydrogenase, MCAD DEFICIENCY, MCADH DEFICIENCY, CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY, ACADM DEFICIENCY, ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF, Medium-chain acyl-coenzyme A dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency (diagnosis), MCAD-Med ch acyl-CoA dehyd def, Med ch acyl-CoA dehydrog defic, Acyl-CoA Dehydrogenase, Medium-Chain Deficiency, Medium-chain Acyl-CoA dehydrogenase deficiency, Medium chain acyl CoA dehydrogenase deficiency, Acyl-CoA dehydrogenase, medium chain, deficiency of, mcad deficiency, ACADMD, Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency, Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Medium chain acyl-CoA dehydrogenase deficiency (disorder), MCAD Deficiency, Medium Chain Acyl-Coa Dehydrogenase Deficiency, MCADH Deficiency, ACADM Deficiency, Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency, MCAD, MCAD deficiency, MCAD - Medium chain acyl-CoA dehydrogenase deficiency, Medium chain acyl-CoA dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency (disorder), Medium chain acyl CoA dehydrogenase deficiency (MCAD)
Czech Deficit acetyl-koenzym A dehydrogenázy se středně dlouhým řetězcem
Dutch medium-chain acyl-co-enzym A dehydrogenase-deficiëntie
French Déficit en acyl-coenzyme A déshydrogénase à chaîne moyenne
German Mittelketten-Acyl-Koenzym-A-Dehydrogenase-Mangel
Hungarian Közepes láncú acil-koenzim A-dehidrogenáz hiány
Italian Deficit di acil-CoA deidrogenasi a catena media
Japanese 中鎖アシル補酵素A脱水素酵素欠損症, チュウサアシルホコウソAダッスイソコウソケッソンショウ
Portuguese Deficiência de desidrogenase da acil-coenzima A de cadeia média
Spanish Deficiencia de acil-coenzima A deshidrogenasa de cadena media, insuficiencia de acilcoenzima A deshidrogenasa de cadena media (trastorno), insuficiencia de acilcoenzima A deshidrogenasa de cadena media
Derived from the NIH UMLS (Unified Medical Language System)

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