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Summary
MEDIUM CHAIN 3-KETOACYL-CoA THIOLASE DEFICIENCY
602199
OMIM = Online Medalian Inheritance of Men
IEM ?
symptoms
dehydration
liver involvement or dysfunction
metabolic acidosis
onset, neonatal
rhabdomyolysis
vomiting
laboratory finding
L-Lactic acid mmol/mol Creaurine
3-Hydroxybutyric acid mmol/mol Creaurine
Literature
Sanaker PS,et al.Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathyBiochim Biophys Acta18026539-5442010
Mochel F,Haller RGMyopathy with Deficiency of ISCUSource GeneReviews-« Internet002016