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Homocystinuria - Medical Condition Information

Homocystinuria

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📋Overview

Homocystinuria is a rare inherited metabolic disorder characterized by an abnormal accumulation of homocysteine due to defects in enzymes involved in methionine metabolism, most commonly cystathionine beta-synthase deficiency. It is a well-recognized condition in modern medicine and is classified under inborn errors of metabolism affecting amino acid processing.

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Medical codes (for reference)

UMLS CUI: C0019880
ICD-10-CM
E72.11
MeSH
D006712
SNOMED CT (US)
11282001

Codes are provided for reference and interoperability. They are not a diagnosis.

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