II. Epidemiology
- Incidence: 1:15,000 to 17,000 live births
- Autosomal Recessive inheritance
- Most common in northwestern european descendents
- Due to Homozygous A985G missense mutation (see below)
III. Pathophysiology
- Defect in Fatty Acid oxidation
- A985G Missense mutation is most common cause
IV. Signs
- Progressive nonketotic Hypoglycemia
- Lethargy to coma
- Vomiting
- Seizures
- Encephalopathy
- Hepatomegaly
V. Screening
-
Newborn Screening
- Routine Newborn Screening performed at birth usually detects MCADD
VI. Labs
- Hypoglcemia
- Urine organic acids
- Metabolic Acidosis
- Hyperammonemia
- Acylcarnitine
- Genetic Testing
VII. Management
- Correct Hypoglycemia!
- Avoid Fasting state
- Frequent meals (low fat, high Carbohydrate) to avoid Hypoglycemia
- Avoid medium chain Fatty Acids (e.g. coconut oil)
- Careful management when ill, Vomiting
- Medic alert tag to notify responders in emergency
VIII. Complications
- Sudden Infant Death Syndrome
- Developmental Delay
- Motor Delay
- Risk of intellectual Developmental Disability
IX. References
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| 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ﾀﾞ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 |
