homocystinuria


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homocystinuria

[‚hō·mō‚sis·tə′nu̇r·ē·ə]
(medicine)
A hereditary disease characterized by a deficiency of the enzyme serine dehydratase causing incompletely dislocated lenses after the age of 10, thromboembolisms, and usually mental retardation.
References in periodicals archive ?
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine [beta]-synthase mutation in homocystinuria. Hum Mol Genet 1997;6:2213-21.
There are three main indications for determining tHcy (Table 7): (a) to diagnose homocystinuria; (b) to identify individuals with or at risk of developing cobalamin or folate deficiency; and (c) to assess tHcy as a risk factor for CVD and other disorders.
Aeglea has two programs in IND-enabling studies for Homocystinuria and Cystinuria and an active discovery pipeline.
indications: for clinical nutrition of patients with homocystinuria. age: for children older than one year.
Tribune News Network Doha A scientist from Qatar University (QU) and his team have characterised the structure-function relationship of CBS enzyme activity with the p.R336C Qatari mutation causing the metabolic disorder "homocystinuria".
The differential diagnoses consist of metabolic disorders (hyperparathyroidism, homocystinuria, alkaptonuria, and acromegaly), arthritis (ankylosing spondylitis, gout, and pseudogout), amyloidosis, and rarely disc hemorrhage in hemochromatosis.
A 30-year-old patient with homocystinuria developed progressive sensory neuropathy with ataxia and impaired sensation in the extremities after receiving 1,250-1,750 mg per day of pyridoxine for 20 years.
Detection of various Organic acids (OA) and their metabolites is the key to the diagnosis of not only organic acidemias, but through testing of certain metabolites like homogentisic acid, orotic acid and succinyl acetone, a range of conditions like homocystinuria, ornithine transcarbamoylase deficiency, and tyrosinemia Type-12, can be detected on this panel.
The disorders of intracellular cobalamin metabolism that are inherited in an autosomal recessive manner result from the deficient synthesis of AdoCbl and MeCbl derived from Vitamin B12; the types of disorders includes: cblA, cblB, cblC, cblD, etc., depending on the pathogenic genes.[1],[2] The cblD disease (MIM# 277410) caused by mutations in the MMADHC gene contains three subtypes: cblD-isolated methylmalonic acidemia (MMA), cblD-isolated homocystinuria (HC) and cblD-MMA/HC (combined MMA and HC).[1] We herein reported the Chinese patient with cblD disease attributable to a novel MMADHC mutation related to translation reinitiation.
Aeglea BioTherapeutics announced that it will present preclinical data on its new pipeline program AEB4104 for homocystinuria at the 2018 American Society of Human Genetics, or ASHG, conference.
Classical homocystinuria and psychiatric disturbances--A case report.
Based on indication, the global market for amino acid metabolism disorder treatment has been classified into phenylketonuria, maple syrup urine disease, argininosuccinic acidemia, citrullinemia, and homocystinuria. Among all of these, phenylketonuria is expected to emerge dominant by the end of the forecast period.