ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO

Question 1

What is  ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO?

Accepted Answer

rare

autosomal recessive

mutation in the AK1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612631

Question 3

Which enzymes are involved?

Accepted Answer

Adenylate kinase isoenzyme 1

Disease	ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
OMIM	612631 OMIM = Online Mendelian Inheritance of Men
Orphanet	86817
Protein (UniProt)	Adenylate kinase isoenzyme 1
ExPASy	2.7.4.3
Gene locus	9q34.11
ICD	D55.3
Summary	rare autosomal recessive mutation in the AK1 gene
Laboratory findings	Hemoglobine dec (blood)
Symptoms	anemia hemolytic anemia hepatomegaly (large liver) jaundice onset, childhood onset, infancy onset, neonatal splenomegaly (large spleen)