PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Disease	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
OMIM	245349 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	pyruvate dehydrogenase E3-binding protein
Gene locus	11p13
genetests.org	search search on genetest.org by MIM 245349
Summary	rare autosomal recessive mutation in the PDX1 gene
Clinical symptoms	ataxia brain, cortical or paraventricular cysts dystonia early death encephalopathy hypotonia lactic acidosis mental retardation metabolic acidosis microcephaly onset, newborn optic atrophy seizures spastic diplegia/quadriplegia
Abnormal Findings in serum	Alanine \| Significant : - increased Lactate \| Significant : - increased Pyruvate, Pyruvic acid \| Significant : - increased
Treatment
Literature	There are 3 publications available. Click here to open the relevant PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY publications