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Summary
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
245349
OMIM = Online Medalian Inheritance of Men
765
11p13
rare
autosomal recessive
mutation in the PDHX gene
symptoms
ataxia
brain, cortical or paraventricular cysts
dystonia
early death
encephalopathy
hypertelorism
hypotonia
lactic acidosis
mental retardation
metabolic acidosis
microcephaly (<2 SD for age)
onset, infancy
onset, neonatal
optic atrophy
psychomotor retardation
seizures
spastic diplegia/quadriplegia
laboratory finding
L-Lactic acid increasedserum
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
Kuery S,et al.Clinical utility gene card for: acrodermatitis enteropathica - update 2015Eur J Hum Genet2452015
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