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.
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., 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). 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.
and psychiatric disturbances--A case report.