| LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD) | |
| LCHAD DEFICIENCY; HADHA | |
|
609016
OMIM = Online Mendelian Inheritance of Men | |
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5 | |
| Trifunctional enzyme subunit alpha, mitochondrial | |
| rare (1:250000, 1:60000 in Sweden) autosomal recessive mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase (HADHA) | |
| Laboratory findings | 3-Hydroxysebacic acid normal/inc (urine) 3-Hydroxysuberic acid normal/inc (urine) 3-Hydroxyacyl-CoA dehydrogenase inc (fibroblasts) 3-Hydroxydicarboxylic acid inc (urine) 3-Hydroxyhexadecenoyl (C16:1-OH) inc (blood) 3-Hydroxyoleoylcarnitine (C18:1-OH) inc (blood) 3-Hydroxypalmitoylcarnitine (C16-OH) inc (blood) 3-Hydroxystearoylcarnitine (C18-OH) inc (blood) Ammonia normal/inc (blood) Creatine kinase inc (serum) D-Glucose normal/dec (serum) Dicarboxylic acids normal/inc (urine) Ketone bodies (urine) normal/inc (urine) L-Carnitine dec (serum) Long chain acyl carnitines inc (plasma) Long-chain 3-hydroxyacyl-CoA dehydrogenase dec (urine) Myoglobin inc (urine) Oleoylcarnitine (C18:1) inc (blood) pH dec (blood) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | cardiac arrhythmia, dysrhythmia cardiomyopathy coma HELLP syndrome intrauterine growth retardation ketosis, ketoacidosis lactic acidosis lethargy, drowsiness, apathy liver involvement or dysfunction low birthweight (small for gestational age) myopathy peripheral neuropathy retinitis pigmentosa retinopathy rhabdomyolysis blindness, visual loss, visual impairment brown colored urine cardiomyopathy, mixed type diarrhea early death encephalopathy failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hyperammonemia hypoglycemia hypotonia liver failure maternal acute fatty liver of pregnancy metabolic acidosis microcephaly (<2 SD for age) motor retardation neurological deterioration onset, childhood onset, infancy onset, neonatal Organic acids, plasma Organic acids, urine pericardial effusion preeclampsia, maternal seizures speech development, delayed, abnormal urine color, abnormal vomiting |