GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

Question 1

What is  GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY?

Accepted Answer

rare
X-linked recessive
mutation in the G6PD gene
> 160 molecular variants

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glukose-6-Phosphat-Dehydrogenase-Mangel der Klasse I

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300908

Question 4

Which enzymes are involved?

Accepted Answer

Glucose-6-phosphate 1-dehydrogenase

Disease	GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
Synonym	ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
OMIM	300908 OMIM = Online Mendelian Inheritance of Men
Orphanet	466026
Protein (UniProt)	Glucose-6-phosphate 1-dehydrogenase
ExPASy	1.1.1.49
Gene locus	Xq28
ICD	D55.0
Summary	rare X-linked recessive mutation in the G6PD gene > 160 molecular variants
Laboratory findings	Bilirubin inc (serum) Hemoglobine dec (blood) Retikulocytes inc (blood)
Symptoms	anemia gallstones, cholelithiasis hemolysis hydrops fetalis infections (severe or recurrent) jaundice kernicterus no clinical symptoms (probably) onset, childhood onset, neonatal pain, abdominal splenomegaly (large spleen)