Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...

We report on an adult patient with citrin deficiency in Hong Kong, in whom a novel mutation was identified. The patient presented with recurrent hyperammonaemic encephalopathy due to impairment of the liver urea cycle enzyme argininosuccinate synthetase. This autosomal recessive condition is also characterised by interesting food preferences, notably aversion to carbohydrates and craving for pr...

objective: to investigate the effect of fluoxetine as an ssri on menstrual disorders. materials and methods: in this cross-sectional study 200 women referring to the islamic azad university affiliated hospitals during march 2011- march 2010 were divided into 4 groups. all included patients in this study had the chief complaint of mood disorders in peri- menstrual period. all patients received d...

CATEGORIES ● Screening for Inborn Errors of Metabolism ● Hyperphenylalaninaemias and Biopterin Defects ● Organic Acid Disorders ● Other Amino Acid Disorders ● Fatty Acid Oxidation Defects ● Mitochondrial Disorders ● Carbohydrate Disorders ● Urea Cycle Disorders ● Purines and Pyrimidine Disorders ● Lipidoses / Fabry Disease ● Peroxisomal Disorders ● Metal and Vitamin Disorders ● Congenital Anoma...

1. Diflubenzuron, [1-(4-chlorophenyl)-3-(2,6-difluorobenzoyl) urea] is an acyl urea derivative for use in the treatment of sea lice (Lepeophtheirus salmonis) infestations in Atlantic salmon. Diflubenzuron is admixed as a 90% pre-concentrate in pelleted diet at a final concentration of 0.6 g diflubenzuron/kg. The intended oral dosage is 3 mg diflubenzuron/kg bw/day during 14 consecutive days. Th...

1. Urea retention, in the sense of a relatively increased concentration in the blood, is the result of increased resistance to the excretion of urea through the kidneys. 2. The relatively increased concentration of urea in the blood overcomes the increased resistance to excretion, and the organism is thereby maintained in nitrogenous equilibrium. 3. The laws formulated by Ambard for the excreti...

ammonia is a toxic material for mammalians. it is detoxificated and converted to urea in the urea cycle in liver. each defect in the urea cycle cause increase in blood ammonia level. ornithine transcarbamylase enzyme (otc) is the second enzyme in the urea cycle that exists in mitochondria. otc deficiency is the most common hereditary disorder in the urea cycle. in this study, 45 hyper ammonia p...