Acetyl-CoA carboxylase deficiency
Incidence
Very rare. Only one case reported but not substantiated further. It is a biotin (cofactor) related condition, involved in the fatty acids synthesis. No cases reported in Saudi Arabia.
Clinical Characteristics
Severe FTT, hypotonia, myopathy, respiratory problems.
Precipitants
no
Provocation Tests
no more
Diagnostic Procedures
Acetyl-CoA carboxylase deficiency: EB-F, EB-W,