COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (COXPD45)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (COXPD45)?

Accepted Answer

very rare

autosomal recessive

mutation in the MRPL12 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618951

Question 3

Which enzymes are involved?

Accepted Answer

decreased mitochondrial respiratory chain enzyme activity (muscle, liver, fibroblasts)

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 (COXPD45)
Synonym	MRPL12
OMIM	618951 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	17q25.3
ICD	---
Summary	very rare autosomal recessive mutation in the MRPL12 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) defect of walking, running, rising or climbing developmental delay dysmorphism early death failure to thrive growth retardation, poor growth hypotonia intrauterine growth retardation lactic acidosis nystagmus onset, fetus onset, neonatal seizures speech development, delayed, abnormal tremor or twitching white matter changes, abnormalities