| MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (MCAD) | |
| ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF | |
|
201450
OMIM = Online Mendelian Inheritance of Men | |
|
42 | |
| medium chain acyl CoA dehydrogenase | |
| 1.3.99.3 | |
| rare (1:9000 -1:13000) autosomal recessive mutation in the medium-chain acyl-CoA dehydrogenase gene | |
| Laboratory findings | Hexanoylcarnitine (C6) inc (urine) Octanoylcarnitine (C8) inc (blood) Transaminases (ASAT/ALAT) normal/inc (serum) 5-Hydroxyhexanoic acid inc (urine) 7-Hydroxyoctanoic acid inc (urine) Acylcarnitine (C2) inc (urine) Adipic acid normal/inc (urine) Adipic acid/3-Hydroxybutyric acid inc (urine) Ammonia inc (blood) Aspartate aminotransferase (ASAT, SGOT) inc (serum) D-Glucose normal/dec (serum) Decanoylcarnitine (C10) inc (plasma) Decenedioic acid inc (urine) Decenoylcarnitine (C10:1) inc (blood) Dicarboxylic acids normal/inc (urine) Hexanoic acid inc (urine) Hexanoylcarnitine (C6) inc (blood) Hexanoylglycine inc (urine) L-Carnitine dec (plasma) L-Hexanoylcarnitine inc (blood) Lactate dehydrogenase (LDH) inc (serum) Medium-chain Acyl-CoA dehydrogenase dec () Octanoic acid inc (urine) Octanoyl-/Decanoylcarnitine (C8/C10) inc (blood) Octenedioic acid inc (urine) pH dec (blood) Phenylpropionylglycine inc (urine) Sebacic acid normal/inc (urine) Suberic acid normal/inc (urine) Suberylglycine inc (urine) Uric acid inc (serum) |
| Symptoms | no clinical symptoms (probably) cardiac arrest coma early death encephalopathy hepatomegaly (large liver) lethargy, drowsiness, apathy liver involvement or dysfunction liver, fatty metabolic acidosis muscle weakness seizures tachypnea, hyperpnea, dyspnea, hyperventilation vomiting behavior, abnormal or bizarre, confusion cardiac arrhythmia, dysrhythmia cardiac involvement, cardiac defects failure to thrive hyperammonemia hypoglycemia onset, adolescent onset, adulthood onset, childhood onset, infancy onset, neonatal Organic acids, urine |