OBJECTIVE To assess the causes for delay in the diagnosis of homocystinuria. DESIGN Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed. SETTING...

A male infant with a diagnosis of homocystinuria presented with avascularity of the peripheral retina with a ridge on ophthalmic exam, consistent with a FEVR-like manifestation homocystinuria. Upon follow-up and treatment for homocystinuria, the retinal vascularity improved without the need for prophylactic treatment to the peripheral avascular retina.

We present an eight-year-old boy who initially presented to us with megaloblastic anemia and subsequently developed dislocation of lens. The child had a positive sodium nitroprusside test and homocystinuria. He was diagnosed to have homocystinuria type 1. His anemia improved on oral pyridoxine and folic acid therapy. Homocystinuria should be remembered as a cause of megaloblastic anemia.

OBJECTIVE To report a rare complication of homocystinuria in a child and highlight the association of homocystinuria with lower gastrointestinal bleeding and intestinal thrombosis. CLINICAL PRESENTATION AND INTERVENTION A 7-year-old boy with homocystinuria and poor compliance with treatment presented with abdominal pain and bloody stools. Doppler ultrasound showed superior mesenteric and midd...

A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history...

Objective Homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. The clinical features are heterogeneous ranging from mental retardation, ectopia lentis, and osteoporosis to vascular events such as deep vein thrombosis, sagital sinus thrombosis, and myocardial infarction. Cerebral sinovenous thrombosis (CVS...

Homocystinuria, an inborn error of amino acid metabolism, is a rare disorder. Here, we are reporting homocystinuria in two adult siblings. The elder brother had seizures, mental retardation, marfanoid habitus and osteoporosis with multiple pathological fractures of the bones and he was operated for a dislocated lens; the younger sister had mental retardation, osteoporosis and untreated dislocat...

BACKGROUND Homocystinuria is a rare metabolic disorder characterized by excess homocysteine in the urine. Vitamin B12 deficiency has diverse cutaneous, nervous and ophthalmic manifestations. OBJECTIVE To report a case of homocystinuria masquerading as vitamin B 12 deficiency. CASE We hereby are presenting an interesting case of a 4 year old boy who was being treated for Vitamin B 12 deficie...

A 20-year-old woman with untreated homocystinuria was examined when she was 18 weeks' pregnant. Amniocentesis was performed and raised levels of homocystine and methionine were present in the amniotic fluid. Assay of cystathionine synthetase activity in cultured amniotic fluid cells showed the carrier state for homocystinuria. An abortion was performed because of the possible adverse effects of...