GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO

Question 1

What is  GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO?

Accepted Answer

rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 230450

Question 3

Which enzymes are involved?

Accepted Answer

Glutamate--cysteine ligase catalytic subunit

Disease	GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Synonym	GCLC
OMIM	230450 OMIM = Online Mendelian Inheritance of Men
Orphanet	33574
Protein (UniProt)	Glutamate--cysteine ligase catalytic subunit
ExPASy	6.3.2.2
Gene locus	6p12.1
ICD	D55.1
Summary	rare autosomal recessive
Laboratory findings	Glutathione dec (erythrocytes) Hemoglobine dec (blood) Retikulocytes inc (blood)
Symptoms	anemia ataxia cognitive impairment hemolytic anemia jaundice myopathy onset, childhood onset, infancy onset, neonatal peripheral neuropathy