COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38?

Accepted Answer

very rare (1 patient)

autosomal recessive

mutation in the MRPS14 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 613878

Question 3

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S14, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38; COXPD38
OMIM	613878 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	28S ribosomal protein S14, mitochondrial
Gene locus	1q25.1
ICD
Summary	very rare (1 patient) autosomal recessive mutation in the MRPS14 gene
Laboratory findings	L-Lactic acid inc (serum)
Symptoms	cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic defect of walking, running, rising or climbing developmental delay dysmorphism failure to thrive growth retardation, poor growth intellectual disability/intellectual developmental disorder lactic acidosis onset, fetus onset, neonatal respiratory insufficiency speech development, delayed, abnormal