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Summary
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
245349
OMIM = Online Medalian Inheritance of Men
765
11p13
rare autosomal recessive mutation in the PDX1 gene
symptoms
ataxia
brain, cortical or paraventricular cysts
dystonia
early death
encephalopathy
hypotonia
lactic acidosis
mental retardation
metabolic acidosis
microcephaly
onset, neonatal
optic atrophy
seizures
spastic diplegia/quadriplegia
laboratory finding
Lactate increasedserum
Pyruvate, Pyruvic acid increasedserum
Alanine increasedserum
Literature
Herskhovitz Eet al.Bone marrow transplantatin for Maroteaux-Lamy syndrome (MPS VI): long-term follow upJ Inherit Metab Dis22050-621999
Ohura Tet al.Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinicsJ Inherit Metab Dis22074-801999
Libert Ret al.Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiencyJ Inherit Metab Dis2209-191999