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bn:03511077n
Noun Concept
Categories: Disorders causing seizures, Amino acid metabolism disorders, Abnormalities of dermal fibrous and elastic tissue, Autosomal recessive disorders
EN
homocystinuria  CBS deficiency  cystathionine beta synthase deficiency  cystathionine synthase deficiency  Homocysteinuria
EN
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. Wikipedia
Definitions
Relations
Sources
EN
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. Wikipedia
An inherited metabolic disorder characterised by the presence of homocysteine in the urine. Wiktionary
Metabolic disorder. Wiktionary (translation)
IS A
rare disease
HAS KIND
methylenetetrahydrofolate reductase deficiency
DRUG USED FOR TREATMENT
betaine
GENETIC ASSOCIATION
Cystathionine beta-synthase
HEALTH SPECIALTY
endocrinology
medical genetics
Wikipedia
EN
homocystinuria
Wikidata
EN
homocystinuria
Wiktionary
EN
homocystinuria
Wikipedia Redirections
EN
Cystathionine beta synthase deficiency, Homocysteinuria, Homocystinuria due to cystathionine beta-synthase
Wikidata Alias
EN
CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency, Homocystinuria (disorder)

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