PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY

Question 1

What is  PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the PDHX gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pyruvatdehydrogenasemangel; Pyruvatdehydrogenase-Komplex-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245349

Question 4

Which enzymes are involved?

Accepted Answer

Pyruvate dehydrogenase protein X component, mitochondrial

Disease	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Synonym	LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX
OMIM	245349 OMIM = Online Mendelian Inheritance of Men
Orphanet	765
Protein (UniProt)	Pyruvate dehydrogenase protein X component, mitochondrial
Gene locus	11p13
ICD	E74.4
Summary	rare autosomal recessive mutation in the PDHX gene
Laboratory findings	L-Lactic acid inc (plasma) Alanine inc (serum) Pyruvic acid inc (serum)
Symptoms	ataxia dystonia early death encephalopathy hypertelorism hypotonia intracerebral, cortical or paraventricular cysts lactic acidosis mental retardation metabolic acidosis microcephaly (<2 SD for age) onset, infancy onset, neonatal optic atrophy psychomotor retardation seizures spastic diplegia/quadriplegia/tetraplegia