The wtfucks who are you

Question 1

Homocystinuria

Answer 1

Homocystinuria is a rare autosomal recessive disease caused by a deficiency of cystathionine beta synthase. This results in severe elevations in plasma and urine homocysteine concentrations.

Features
often patients have fine, fair hair
musculoskeletal
Marfanoid body habitus: arachnodactyly etc
osteoporosis
kyphosis
neurological: may have learning difficulties, seizures
ocular
downwards (inferonasal) dislocation of lens
severe myopia
increased risk of arterial and venous thromboembolism
also malar flush, livedo reticularis

Investigations
increased homocysteine levels in serum and urine
cyanide-nitroprusside test: also positive in cystinuria

Treatment is vitamin B6 (pyridoxine) supplements.