MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (MPYCD)

Question 1

What is  MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (MPYCD)?

Accepted Answer

very rare
autosomal recessive
mutation in the BRP44L gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondrialer Pyruvat-Carrier-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614741

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial pyruvate carrier 1

Disease	MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (MPYCD)
Synonym	BRP44L
OMIM	614741 OMIM = Online Mendelian Inheritance of Men
Orphanet	447784
Protein (UniProt)	Mitochondrial pyruvate carrier 1
Gene locus	6q27
ICD	E74.4
Summary	very rare autosomal recessive mutation in the BRP44L gene
Laboratory findings	D-Glucose dec (plasma) L-Lactic acid inc (plasma) Lactate/Pyruvate ratio (serum) Pyruvic acid inc (serum)
Symptoms	abnormal movement developmental delay dysmorphism encephalopathy epicanthus or medial eyelid fold hepatomegaly (large liver) hypoglycemia hypotonia inverted nipples lactic acidosis long, broad, prominent philtrum microcephaly (<2 SD for age) nystagmus onset, neonatal peripheral neuropathy respiratory distress seizures