| LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (LCAD) | |
|
201475
OMIM = Online Mendelian Inheritance of Men | |
|
26793 | |
| 3-Hydroxyacyl-CoA DH, Enoyl-CoA hydratase, 3-Ketoacyl-CoA thi | |
| 1.3.99.13 | |
| rare autosomal recessive LCAD is a homotetramer in the matrix of the cell some LCAD patients have been shown to be deficient in the VLCAD enzyme -> moved to OMIM 201475 | |
| Laboratory findings | Acylcarnitine (C2) inc (urine) Acylcarnitine/carnitine ratio inc (urine) Creatine kinase inc (serum) D-Glucose normal/dec (serum) L-Carnitine dec (plasma) L-Lactic acid normal/inc (blood) Long chain acyl carnitines inc (urine) Long chain acyl carnitines inc (plasma) Long chain acyl-CoA dehydrogenase dec (fibroblasts) Long chain dicarboxylic acids inc (urine) Long-chain acyl-CoAs inc (urine) Myoglobin inc (urine) pH dec (blood) Sebacic acid inc (urine) Suberic acid inc (urine) Transaminases (ASAT/ALAT) normal/inc (serum) Uric acid inc (serum) |
| Symptoms | cardiomyopathy coma hypotonia lethargy, drowsiness, apathy liver involvement or dysfunction myopathy rhabdomyolysis behavior, autism or autistic-like brown colored urine cardiomegaly cirrhosis or fibrosis of liver diarrhea early death ECG abnormalities [-] edema EEG abnormalities [-] encephalopathy feeding difficulties, poor feeding hepatomegaly (large liver) hypoglycemia onset, childhood onset, infancy onset, neonatal peripheral neuropathy preeclampsia, maternal retinal or macular degeneration steatorrhea tachypnea, hyperpnea, dyspnea, hyperventilation urine color, abnormal vomiting |