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Summary
PYRUVATE DEHYDROGENASE DEFICIENCY (E2)
PDHDD LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
245348
OMIM = Online Medalian Inheritance of Men
79244
11q23.1
very rare
autosomal recessive
symptoms
ataxia
developmental delay
dystonia
hyperammonemia
hyperreflexia
hypotonia
lactic acidosis
mental retardation
microcephaly (<2 SD for age)
motor retardation
nystagmus
onset, infancy
onset, neonatal
psychomotor retardation
ptosis (drooping eyelid)
laboratory finding
Ammonia increasedblood
L-Lactic acid normal-increasedblood
MRI, brain, abnormalities - ---
L-Lactic acid normal-increasedcerebrospinal fluid
Literature
Bove F,Fasano AIron chelation therapy to prevent the manifestations of aceruloplasminemiaNeurology85121085-10862015
Popowska Eet al.Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patientsJ Inherit Metab Dis22092-931999
Kobayashi K,Kono M1, Shiraishi MSevere acquired acrodermatitis enteropathica caused by anorexia nervosaJ Dermatol434456-4572016
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