PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD

Question 1

What is  PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD?

Accepted Answer

rare
autosoma recessive
mutation in the PDHB gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pyruvat-Dehydrogenase E1-beta-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614111

Question 4

Which enzymes are involved?

Accepted Answer

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial

Disease	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD
OMIM	614111 OMIM = Online Mendelian Inheritance of Men
Orphanet	255138
Protein (UniProt)	Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Gene locus	3p14.3
ICD	E74.4
Summary	rare autosoma recessive mutation in the PDHB gene
Laboratory findings	Alanine inc (plasma) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma) Pyruvic acid inc (plasma)
Symptoms	developmental delay failure to thrive hyporeflexia hypotonia ketosis, ketoacidosis lactic acidosis Leigh syndrome microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, neonatal pyramidal signs wide nasal bridge