COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13?

Accepted Answer

rare
autosomal recessive
mutation in the PNPT1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 13

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614932

Question 4

Which enzymes are involved?

Accepted Answer

Polyribonucleotide nucleotidyltransferase 1, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13
OMIM	614932 OMIM = Online Mendelian Inheritance of Men
Orphanet	319514
Protein (UniProt)	Polyribonucleotide nucleotidyltransferase 1, mitochondrial
Gene locus	2p16.1
ICD	G71.3
Summary	rare autosomal recessive mutation in the PNPT1 gene
Laboratory findings	L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	abnormal movement developmental delay dyskinesia dystonia encephalopathy growth retardation, poor growth hearing defect, deafness hyporeflexia hypotonia lactic acidosis muscle atrophy muscle weakness myopathy nystagmus onset, infancy optic atrophy speech development, delayed, abnormal