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VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)

VERY-LONG-CHAIN ACYL CoA DEHYDROGENASE DEFICIENCY (VLCAD)
VLCAD DEFICIENCY; ACADVLD
201475
OMIM = Online Mendelian Inheritance of Men
26793
Very long-chain specific acyl-CoA dehydrogenase, mitochondrial, Long-chain specific acyl-CoA dehydrogenase, mitochondrial
17p13.1
E71.3
rare (1:85000)
autosomal recessive
3 phenotypes:
- severe form (early death, hypertrophic cardiomyopathy, early onset)
- milder form with late onset (hypoketotic hypoglycemia, no cardiac involvement)
- later occurrences in adolescents and adults (rhabdomyolysis, myoglobinuria )
Newborn screening for VLCADD suffers from a high false positive rate due to
false positive results in many heterozygotes and to elevated acylcarnitines
including C14:1 in some catabolic neonates even in the absence of ACADVL mutations [Simon EO2017]
Laboratory findingsAdipic acid inc (urine)
Long chain acyl carnitines inc (plasma)
Sebacic acid normal/inc (urine)
Suberic acid normal/inc (urine)
Tetradecenoylcarnitine (C14:1) n/i (dried blood spot (DB)
    Creatine kinase inc (serum)
    D-Glucose normal/dec (blood)
    Dicarboxylic acids inc (urine)
    Hexadecenoylcarnitine (C16:1) inc (plasma)
    Ketone bodies (urine) normal/inc (urine)
    L-Carnitine n/d (plasma)
    L-Carnitine n/d (dried blood spot (DB)
    Linoleoylcarnitine (C18:2) inc (plasma)
    Myoglobin inc (urine)
    Oleoylcarnitine (C18:1) inc (blood)
    Palmitoylcarnitine (C16) inc (blood)
    pH dec (blood)
    Tetradecadienoylcarnitine (C14:2) inc (blood)
    Tetradecanoylcarnitine (C14)/Propionylcarnitine (C3) inc (blood)
    Tetradecenoic acid inc (plasma)
    Tetradecenoylcarnitine (C14:1) n/i (plasma)
    Tetradecenoylcarnitine (C14:1)/ Dodecenoylcarnitine (C12:1) (plasma)
    Very-long-chain acyl-CoA dehydrogenase dec (fibroblasts)
Symptoms   cardiomyopathy
   coma
   hypotonia
   lethargy, drowsiness, apathy
   liver involvement or dysfunction
   myoglobinuria
   myopathy
   rhabdomyolysis
    cardiac arrest
    cardiomegaly
    cardiomyopathy, hypertrophic
    cardiomyopathy, mixed type
    early death
    encephalopathy
    hepatomegaly (large liver)
    hypoglycemia
    ketosis, ketoacidosis
    metabolic acidosis
    muscle weakness
    onset, adulthood
    onset, childhood
    onset, infancy
    onset, neonatal
    pain, muscle
    pericardial effusion
    respiratory insufficiency
    steatorrhea