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Summary
ACETYL-CoA CARBOXYLASE DEFICIENCY ACACAD
ACACA DEFICIENCY
613933
OMIM = Online Medalian Inheritance of Men
---
17q12
very rare
autosomal recessive

symptoms
growth retardation, poor growth
hypotonia
myopathy
onset, neonatal
laboratory finding
Fibroblast growth factor 21 (FGF-21) mmol/mol Creaurine
2-Ethyl-3-hydroxy-hexanoic acid mmol/mol Creaurine
2-Ethyl-3-keto-hexanoic acid mmol/mol Creaurine
Literature
Nozu K,et al.Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafnessJ Med Genet453182-1862008