COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23?

Accepted Answer

rare
autosomal recessive
mutation in the GTPBP3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 23

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616198

Question 4

Which enzymes are involved?

Accepted Answer

tRNA modification GTPase GTPBP3, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23
OMIM	616198 OMIM = Online Mendelian Inheritance of Men
Orphanet	444013
Protein (UniProt)	tRNA modification GTPase GTPBP3, mitochondrial
Gene locus	19p13.11
ICD	I42.2
Summary	rare autosomal recessive mutation in the GTPBP3 gene
Laboratory findings	Alanine normal/inc (plasma) L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	blindness, visual loss, visual impairment cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, hypertrophic developmental delay early death encephalopathy failure to thrive feeding difficulties, poor feeding heart failure, cardiac failure hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation lactic acidosis onset, neonatal respiratory insufficiency seizures