SULFIDE QUINONE OXIDOREDUCTASE DEFICIENCY (SQOR) (NEW DISEASE?)

Question 1

What is  SULFIDE QUINONE OXIDOREDUCTASE DEFICIENCY (SQOR) (NEW DISEASE?)?

Accepted Answer

very rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617658

Question 3

Which enzymes are involved?

Accepted Answer

Sulfide:quinone oxidoreductase, mitochondrial

Disease	SULFIDE QUINONE OXIDOREDUCTASE DEFICIENCY (SQOR) (NEW DISEASE?)
OMIM	617658 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Sulfide:quinone oxidoreductase, mitochondrial
ExPASy	1.8.5.4
Gene locus	15q21.1
ICD	---
Summary	very rare autosomal recessive
Laboratory findings	L-Lactic acid inc (plasma)
Symptoms	early death hypotonia lactic acidosis Leigh syndrome MRI, brain, abnormalities [-] onset, childhood