COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 4

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610678

Question 4

Which enzymes are involved?

Accepted Answer

Elongation factor Tu, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4
Synonym	TUFM
OMIM	610678 OMIM = Online Mendelian Inheritance of Men
Orphanet	254925
Protein (UniProt)	Elongation factor Tu, mitochondrial
ExPASy	---
Gene locus	16p11.2
ICD	E88.8
Summary	rare autosomal recessive
Laboratory findings	Ammonia inc (blood) L-Lactic acid inc (plasma)
Symptoms	encephalopathy hyperammonemia hypertonia, spasticity hypotonia lactic acidosis leukodystrophy liver involvement or dysfunction metabolic acidosis microcephaly (<2 SD for age) nystagmus onset, infancy onset, neonatal psychomotor regression respiratory distress small for gestational age (SGA), intrauterine growth retardation (IUGR)