COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32?

Accepted Answer

rare
autosomal recessive
mutation in the MRPS34 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 32

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617664

Question 4

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S34, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32
OMIM	617664 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	28S ribosomal protein S34, mitochondrial
Gene locus	16p13.3
ICD
Summary	rare autosomal recessive mutation in the MRPS34 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	chorea or athetosis coarse facial features constipation contractures, joints defect of walking, running, rising or climbing developmental delay dystonia early death eye movements, abnormal feeding difficulties, poor feeding hyperreflexia hypotonia lactic acidosis Leigh syndrome microcephaly (<2 SD for age) nystagmus onset, infancy optic atrophy ptosis (drooping eyelid) speech development, delayed, abnormal strabismus