Other phagocyte defects [DS:H00101] Disorders of innate immunity [DS:H02525] Primary immunodeficiency disease [DS:H01725] Anemia due to disorders of glutathione metabolism [DS:H00668]
Description
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are associated with a wide range of biochemical and clinical phenotypes. G6PD deficiency is the most common enzymatic disorder in humans. It is estimated that about 400 million people are affected by this deficiency. More than 400 biochemical variants of G6PD deficiency have since been defined, and grouped into five classes based on enzyme activity and clinical manifestations. The most common clinical manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava beans.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C51 Inborn errors of carbohydrate metabolism
H01375 Glucose 6-phosphate dehydrogenase deficiency
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06026 Glutathione biosynthesis
H01375 Glucose 6-phosphate dehydrogenase deficiency
