During the course of our study we have come across with two cases of homocysteinuria
with similar complaints in two siblings.
Higginbottom MC, Sweetman L and WL Nyhan A syndrome of methyl malonicaciduria, homocysteinuria
, megaloblastic anaemia and neurological abnormalities in vitamin [B.
Asymmetric dimethylarginine in homocysteinuria
due to cystathionine beta-synthase deficiency: relevance of renal function.
Elevated homocysteine in the blood is termed homocysteinemia and in the urine, homocysteinuria
is a rare genetic disorder that presents with arterial and venous thromboses in young patients--in such cases, with otherwise unexplained CVD or thromboses, homocysteine testing is important.
The observation of advanced and early-onset atherosclerosis in patients with homocysteinuria
prompted evaluation of plasma homocysteine as a risk factor for atherosclerosis in the broader population.