PYRUVATE DEHYDROGENASE DEFICIENCY (E2)

Question 1

What is  PYRUVATE DEHYDROGENASE DEFICIENCY (E2)?

Accepted Answer

very rare
autosomal recessive
mutation in the DLAT gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pyruvat-Dehydrogenase E2-Mangel; Dihydrolipoamid-S-Acetyltransferase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245348

Question 4

Which enzymes are involved?

Accepted Answer

Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial

Disease	PYRUVATE DEHYDROGENASE DEFICIENCY (E2)
Synonym	PDHDD; LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX
OMIM	245348 OMIM = Online Mendelian Inheritance of Men
Orphanet	79244
Protein (UniProt)	Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
ExPASy	2.3.1.12
Gene locus	11q23.1
ICD	E74.4
Summary	very rare autosomal recessive mutation in the DLAT gene
Laboratory findings	Ammonia inc (blood) L-Lactic acid normal/inc (blood) L-Lactic acid normal/inc (cerebrospinal fluid)
Symptoms	ataxia developmental delay dystonia hyperammonemia hyperreflexia hypotonia lactic acidosis mental retardation microcephaly (<2 SD for age) motor retardation MRI, brain, abnormalities [-] nystagmus onset, infancy onset, neonatal psychomotor retardation ptosis (drooping eyelid)