COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36?

Accepted Answer

very rare

autosomal recessive

mutation in the MRPS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617950

Question 3

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S2, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36
OMIM	617950 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	28S ribosomal protein S2, mitochondrial
Gene locus	9q34.3
ICD
Summary	very rare autosomal recessive mutation in the MRPS2 gene
Laboratory findings	2-Oxoglutaric acid inc (urine) Alanine inc (plasma) L-Lactic acid inc (serum)
Symptoms	developmental delay dysmorphism failure to thrive hearing defect, deafness hypoglycemia hypotonia intellectual disability/intellectual developmental disorder onset, infancy onset, neonatal speech development, delayed, abnormal