COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2?

Accepted Answer

rare
autosomal recessive
mutation in the MRPS16 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610498

Question 4

Which enzymes are involved?

Accepted Answer

28S ribosomal protein S16, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2
Synonym	CORPUS CALLOSUM, AGENESIS OF, WITH DYSMORPHISM AND FATAL LACTIC ACIDOSIS
OMIM	610498 OMIM = Online Mendelian Inheritance of Men
Orphanet	254920
Protein (UniProt)	28S ribosomal protein S16, mitochondrial
Gene locus	10q22.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the MRPS16 gene
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	abnormal movement brachydactyly corpus callosum, agenesis/hypoplasia decreased spontaneous movements dysmorphism early death edema feeding difficulties, poor feeding hypotonia lactic acidosis liver involvement or dysfunction low set ears MRI, brain, abnormalities [-] onset, neonatal small for gestational age (SGA), intrauterine growth retardation (IUGR)