Homocystinuria in Adult Siblings 485-487
Correspondence
Dr. Kannan R., Assistant Professor,
Department of Medicine,
Saveetha Medical College & Hospital,
Saveetha University, Saveetha Nagar,
Thandalam, Chennai – 602 105, Tamilnadu, India.
E-mail: endork@rediffmail.com
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 dislocated lens in both the eyes. Homocystinuria was diagnosed in both the siblings and they were started on treatment with vitamin B6, vitamin B12 and folic acid. A decrease in the urine and plasma homocysteine levels with a good response was noted after treatment.