go back

ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD

ACETYL-CoA CARBOXYLASE DEFICIENCY; ACACAD
ACACA DEFICIENCY
613933
OMIM = Online Mendelian Inheritance of Men
---
Acetyl-CoA carboxylase 1
6.4.1.2
17q12
---
very rare
autosomal recessive

Laboratory findings    2-Ethyl-3-hydroxy-hexanoic acid inc (urine)
    2-Ethyl-3-keto-hexanoic acid inc (urine)
    2-Ethyl-hexanedioic acid inc (urine)
Symptomsgrowth retardation, poor growth
hypotonia
myopathy
    onset, neonatal