COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (COXPD48)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (COXPD48)?

Accepted Answer

very rare

mutation in the NSUN3 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 619012

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (COXPD48)
OMIM	619012 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	3q11.2
ICD	---
Summary	very rare mutation in the NSUN3 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	cerebral atrophy developmental delay encephalomyopathy failure to thrive hypotonia lactic acidosis microcephaly (<2 SD for age) muscle weakness nystagmus onset, childhood onset, infancy ophthalmoplegia seizures white matter changes, abnormalities