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Summary
PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY PDHPD
608726
OMIM = Online Medalian Inheritance of Men
79246
8q22.1
very rare
autosomal recessive
mutation in the PDP1 gene
symptoms
developmental delay
dysphagia
failure to thrive
hypotonia
lactic acidosis
mental retardation
nystagmus
onset, infancy
onset, neonatal
seizures
laboratory finding
MRI, brain, abnormalities -
Alanine increasedplasma
Pyruvic acid increasedplasma
Ketone bodies increasedurine
Ketone bodies increasedliver
Literature
Davidovics ZH,et al.Fecal Transplantation Successfully Treats Recurrent D-Lactic Acidosis in a Child With Short Bowel SyndromeJPEN J Parenter Enteral Nutr415896-8972017
Park B,Fichadia U, Shah AA 3-year-old boy with ataxiaPediatr Emerg Care313220-2212015