COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9?

Accepted Answer

rare
autosomal recessive
mutation in the MRPL3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 9

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614582

Question 4

Which enzymes are involved?

Accepted Answer

39S ribosomal protein L3, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9
OMIM	614582 OMIM = Online Mendelian Inheritance of Men
Orphanet	319509
Protein (UniProt)	39S ribosomal protein L3, mitochondrial
Gene locus	3q22.1
ICD	I42.2
Summary	rare autosomal recessive mutation in the MRPL3 gene
Laboratory findings	Alanine inc (serum) L-Lactic acid inc (plasma) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic developmental delay dyspnea failure to thrive feeding difficulties, poor feeding hearing defect, deafness hepatomegaly (large liver) lactic acidosis liver involvement or dysfunction metabolic acidosis MRI, brain, abnormalities [-] nephritis onset, infancy psychomotor retardation