COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26?

Accepted Answer

rare
autosomal recessive
mutation in the TRMT5 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 26

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616539

Question 4

Which enzymes are involved?

Accepted Answer

tRNA (guanine(37)-N1)-methyltransferase

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26
OMIM	616539 OMIM = Online Mendelian Inheritance of Men
Orphanet	477684
Protein (UniProt)	tRNA (guanine(37)-N1)-methyltransferase
Gene locus	14q23.1
ICD
Summary	rare autosomal recessive mutation in the TRMT5 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy defect of walking, running, rising or climbing dysmorphism exercise intolerance failure to thrive growth retardation, poor growth hyperreflexia lactic acidosis malabsorption onset, infancy pancreatic insufficiency sclerae, blue or bluish speech development, delayed, abnormal tubulopathy