Etymed
homocystinuria
Definition
A metabolic disorder characterized by the presence of homocystine in the urine due to defective metabolism of methionine
Clinical context
A 17-year-old tall, thin male presents with visual disturbances and thromboembolic events. Physical examination reveals marfanoid habitus and dislocated lenses. Urinalysis shows elevated homocystine levels. His condition is caused by a deficiency in the enzyme cystathionine beta-synthase. His sister had similar symptoms and died of a stroke at age 25.
Mnemonic
HOMO - Homocysteine in urine, Marfanoid habitus, Ophthalmic dislocation, Mental retardation, Early thrombosis
These morphemes also unlock…
- homo- — same
- cyst/o — bladder; sac (here: cysteine, amino acid)
- -in — chemical substance
- ur/o — urine
- -ia — condition; state