homocystinuria/seizures

Reported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures. In all three, EEG were suggestive of BECTS, although the clinical

We present findings on an infant with neonatal megaloblastic anemia, homocystinuria, and neurologic dysfunction that included developmental delay and tonic seizures. There was no methylmalonic aciduria. Cyanocobalamin therapy was accompanied by complete hematologic and neurologic recovery,

Homocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I) homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine. The authors report a 15-year-old Thai

OBJECTIVE Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. METHODS The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital

Combined methylmalonicaciduria and homocystinuria is a disorder of intracellular cobalamin metabolism that remains a challenge to the physician unfamiliar with the diagnosis. We have followed six patients with combined methylmalonicaciduria and homocystinuria (four males, two females, age 4.2-24

BACKGROUND Homocystinuria caused by cystathionine beta synthase (CBS) deficiency is most often diagnosed in childhood and has a variable expressivity. The most frequent abnormalities include intellectual disability, ectopia lentis, myopia, skeletal abnormalities or thromboembolism. OBJECTIVE To

OBJECTIVE Combined methylmalonic acidemia with homocystinuria is a common form of methylmalonic acidemia in China. Patients with this disease can progress to death without timely and effective treatment. This study aimed to analyze the treatment outcomes of patients with combined methylmalonic

We report a rare male case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency. The onset of his disorder was at 19 years of age, and he had no family history. He initially developed gait disturbance, and then generalized seizure in several months, which made him

Homocystinuria is due to enzymatic deficiencies resulting in elevated blood levels of homocysteine (Hcy), homocystine (Hci), and/or methionine (Met) and the clinical presentation of mental retardation, seizures, and cardiovascular disease. Since these symptoms may be closely implicated with

Homocystinuria with elevated plasma homocysteine and methionine levels is the result of deficient activity of cystathionine synthetase, the enzyme catalyzing conversion of homocysteine to cystathionine. It is inherited as an autosomal recessive trait with a worldwide distribution. The major clinical

Two infants of homocystinuria with a defective activity of the N5,10-methylenetetrahydrofolate reductase in the liver, kidney, brain and/or leukocytes were reported. Contrary to four cases with similar biochemical defects reported up to date, the two cases of ours demonstrated peculiar clinical

Homocystinuria is an inborn error of methionine metabolism, of which cause is mainly deficiency of cystathionine synthetase. The major clinical manifestations of homocystinuria are mental retardation, seizures, ectopia lentis, skeletal deformities and occlusive vascular disease. A case of

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

Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely