CLASSICAL HOMOCYSTINURIA
key points of classical homocystinuria
H- High dose of Vitamin B6 is required for treatment+ folic acid sometimes
O – Ocular (ectopia lentis)
M- Marfan like features ( Arachnodactyly, scoliosis, high arched palate, crowding of teeth , pes cavus ,genu valgum
O – Osteoporosis of spine is common
Cy- Cysthionine $ synthase (CBS) deficiency
S – Seizure may be seen
T – Thromboembolic events are common
In – Intellectual disability progressive common
E–Elevated level of methionine and homocysteine in body fluids are diagnostic
Beta – Betaine lower homocysteine level in body fluid, used in treatment