COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31?

Accepted Answer

rare
autosomal recessive
mutation in the MIPEP gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 31

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617228

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial intermediate peptidase

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31; COXPD31
OMIM	617228 OMIM = Online Mendelian Inheritance of Men
Orphanet	478049
Protein (UniProt)	Mitochondrial intermediate peptidase
Gene locus	13q12.12
ICD
Summary	rare autosomal recessive mutation in the MIPEP gene
Laboratory findings	Alanine inc (serum) L-Lactic acid inc (plasma)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic cardiomyopathy, noncompaction cataract developmental delay dysmorphism early death failure to thrive feeding difficulties, poor feeding hypertonia, spasticity hypotonia lactic acidosis microcephaly (<2 SD for age) onset, infancy