Homocystinuria due to cystathionine β-synthase deficiency or "classical homocystinuria" is a rare autosomal recessive condition resulting in altered sulfur metabolism with elevated methionine and homocysteine in plasma and homocystine in urine. This condition is characterized by a high clinical heterogeneity, which contributes to late clinical diagnosis, usually only made after irreversible dam...

OBJECTIVE Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. MATERIALS & METHODS The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was ...

how to cite this article: eslamiyeh h, ashrafzadeh f, akhondian j, beiraghi toosi m. homocystinuria: a rare disorder presenting as cerebral sinovenous thrombosis. iran j child neurol. spring 2015;9(2):53-57. abstract objective homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. the clinical features are ...

OBJECTIVE (i) To determine whether clinical features and biochemical parameters help to predict survival of methylmalonic acidemia with homocystinuria; (ii) To find the cutoff values of biochemical parameters for predicting survival of methylmalonic acidemia with homocystinuria. DESIGN A prospective cohort study. SETTING A pediatric tertiary hospital in Beijing; all patients were followed u...

Homocystinuria is an inherited disease of homocysteine metabolism most commonly caused by deficiency of the pyridoxal phosphate-dependent enzyme, cystathionine synthase. The disease is manifested in many cases by accelerated growth in childhood, dislocated ocular lenses, skeletal abnormalities, retarded mental development, and propensity to thrombosis with increased mortality from vascular dise...

Background: Homocystinuria is an autosomal recessively inherited defect of methionine catabolism. This rare condition causes abnormal accumulation of homocysteine in the blood and urine that is not typically found in significant quantities. While elevated homocysteine levels can cause damage to multiple organ systems, they most often affect the cardiovascular, musculoskeletal, ocular, and centr...

Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B(12) (cobalamin) metabolism. The recent cloning of the disease gene, MMACHC, has permitted genotype-phenotype correlation. In a 1-year-old girl, compound heterozygous c.271dupA and c.616C>T mutations in MMACHC were identified as causing an early onset methylmalonic aciduria and homocystinuria, cblC...

Homozygous homocystinuria, the most common genetic disorder of transulphuration, is associated with elevated plasma concentrations of homocystine, homocysteine, multiple clinical abnormalities and life-threatening thromboembolism. Several instances of vascular aneurysms have also been documented. More recently, an association between premature occlusive vascular disease and the heterozygous sta...

Galactosaemia, phenylketonuria and homocystinuria are inborn errors of metabolism as the term was defined by Garrod (1908). I n all three lack of an enzyme causes a metabolic block and accumulation of the substrate of the missing enzyme, and all three are inherited as Mendelian recessive characters. Unlike Garrod's original examples, galactosaemia, phenylketonuria and homocystinuria are often a...

The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. This study was aimed to detect the mutations in CBS in a Han Chinese family with homocystinuria. A four-generation family from Shandong Province of China was recruited in this study. All available members of the family underwent comprehensive medical examinations. Genomic DNA was collected from peripheral bl...