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LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)

LONG-CHAIN-3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (LCHAD)
LCHAD DEFICIENCY; HADHA
609016
OMIM = Online Mendelian Inheritance of Men
5
Trifunctional enzyme subunit alpha, mitochondrial
2p23.3
E71.3
rare (1:250000, 1:60000 in Sweden)
autosomal recessive
mutations in the gene encoding long-chain hydroxyacyl-CoA dehydrogenase (HADHA)
Laboratory findings3-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