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glutamate-cysteine ligase deficiency

http://purl.obolibrary.org/obo/DOID_0111681

An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

glutamate-cysteine ligase deficiency

Synonyms

gamma-glutamylcysteine synthetase deficiency
hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency

database cross reference

has obo namespace

disease_ontology

DOID:0111681

Term relations

Subclass of:

autosomal recessive disease
amino acid metabolic disorder
has material basis in some autosomal recessive inheritance