COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (COXPD19)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (COXPD19)?

Accepted Answer

very rare
autosomal recessive
mutation in the LYRM4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 19

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615595

Question 4

Which enzymes are involved?

Accepted Answer

LYR motif-containing protein 4

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (COXPD19)
Synonym	LYRM4, ISD11
OMIM	615595 OMIM = Online Mendelian Inheritance of Men
Orphanet	397593
Protein (UniProt)	LYR motif-containing protein 4
Gene locus	6p25.1
ICD	E88.8
Summary	very rare autosomal recessive mutation in the LYRM4 gene
Laboratory findings	3-Hydroxy-3-methylglutaric acid normal/inc (urine) 3-Hydroxyisovaleric acid normal/inc (urine) 3-Methylglutaconic acid normal/inc (urine) L-Lactic acid inc (plasma)
Symptoms	cardiac arrest failure to thrive feeding difficulties, poor feeding hypotonia lactic acidosis onset, infancy onset, neonatal respiratory distress