PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD

Question 1

What is  PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD?

Accepted Answer

very rare
autosomal recessive
mutation in the PDP1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pyruvat-Dehydrogenase-Phosphatase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608782

Question 4

Which enzymes are involved?

Accepted Answer

[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial

Disease	PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD
Synonym	LACTIC ACIDEMIA WITH PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
OMIM	608782 OMIM = Online Mendelian Inheritance of Men
Orphanet	79246
Protein (UniProt)	[Pyruvate dehydrogenase [acetyl-transferring]]-phosphatase 1, mitochondrial
ExPASy	3.1.3.43
Gene locus	8q22.1
ICD	E74.4
Summary	very rare autosomal recessive mutation in the PDP1 gene
Laboratory findings	Alanine inc (plasma) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma) Pyruvic acid inc (plasma)
Symptoms	developmental delay dysphagia failure to thrive hypotonia ketosis, ketoacidosis lactic acidosis mental retardation MRI, brain, abnormalities [-] nystagmus onset, infancy onset, neonatal seizures