COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39?

Accepted Answer

very rare

autosomal recessive

mutation in the GFM2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618397

Question 3

Which enzymes are involved?

Accepted Answer

Ribosome-releasing factor 2, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39; COXPD39
OMIM	618397 OMIM = Online Mendelian Inheritance of Men
Orphanet	565624
Protein (UniProt)	Ribosome-releasing factor 2, mitochondrial
Gene locus	5q13.3
ICD
Summary	very rare autosomal recessive mutation in the GFM2 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	abnormal movement arthrogryposis contractures, joints developmental delay drooling dysarthria dystonia hypertonia, spasticity hypoglycemia hypotonia intrauterine growth retardation microcephaly (<2 SD for age) MRI, brain, abnormalities [-] onset, fetus onset, infancy onset, neonatal seizures speech development, delayed, abnormal