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Summary
PYRUVATE DEHYDROGENASE DEFICIENCY (E2)
LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
245348
OMIM = Online Medalian Inheritance of Men
unknown
very rare autosomal recessive
symptoms
hyperammonemia
lactic acidosis
mental retardation
microcephaly
motor retardation
onset, newborn
laboratory finding
Ammonia increasedblood
Lactate increasedblood
Literature
Popowska Eet al.Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patientsJ Inherit Metab Dis22092-931999
Hirschhorn RGlycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiencyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202443-24641995