HOMOCISTINURIA REVISION PDF

Apart from CBS deficiency, there are six other distinct types of homocystinuria: 5,methylenetetrahydrofolate reductase deficiency. All the other forms of homocystinuria result from enzyme abnormalities involved in the conversion of homocysteine to methionine. This is catalysed by homocysteine:methyltetrahydrofolate methyltransferase also called methionine synthase and its two cofactors - methyltetrahydrofolate and methylcobalamin methyl-vitamin B These cases are severe and rarely reported; thus, experience with treatments and other data are limited[ 2 ]. The rest of this article discusses classical homocystinuria caused by CBS deficiency.

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Apart from CBS deficiency, there are six other distinct types of homocystinuria: 5,methylenetetrahydrofolate reductase deficiency. All the other forms of homocystinuria result from enzyme abnormalities involved in the conversion of homocysteine to methionine. This is catalysed by homocysteine:methyltetrahydrofolate methyltransferase also called methionine synthase and its two cofactors - methyltetrahydrofolate and methylcobalamin methyl-vitamin B These cases are severe and rarely reported; thus, experience with treatments and other data are limited[ 2 ].

The rest of this article discusses classical homocystinuria caused by CBS deficiency. Pathophysiology It results from reduced activity of the enzyme CBS which is involved in the conversion of methionine to cysteine. The enzyme is mapped to gene locus 21q22[ 3 ]. Homocysteine and methionine accumulate in tissues and interfere with the cross-linking of collagen fibres. Epidemiology The G S mutation is the most common cause of homocystinuria in patients of Celtic origin.

Guthrie testing has shown the incidence to be 1 in , worldwide but it is much higher in Ireland 1 in 65, All cases are inherited as autosomal recessive. Clinical findings Raised plasma homocysteine that results in homocystinuria and raised plasma methionine levels[ 4 ]. Abnormalities typically develop by the age of Heterozygous carriers 1 in 70 of the general population have hyperhomocystinaemia - raised plasma homocysteine levels with no homocystinuria.

Their risk of premature cardiovascular disease is increased. Eyes: dislocation of the lens usually downward and medially ectopia lentis , myopia, glaucoma.

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HOMOCISTINURIA REVISION PDF

Gardat Pregnancy Management Because women with homocystinuria may be at greater than average risk for thromboembolism, especially post partum, prophylactic anticoagulation during the third trimester of pregnancy and post partum is recommended. The two phenotypic variants of classic homocystinuria — B 6 -responsive and B 6 -non-responsive homocystinuria — can have differing natural history and management. Pathway demonstrating disorders in the biochemical differential diagnosis for homocystinuria. If the test is positive, blood or urine tests can be done to confirm the diagnosis. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

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Tazragore If the test is positive, blood or urine tests can be done to confirm the diagnosis. If the CBS pathogenic variants in the family are known, molecular genetic testing can be used to clarify the genetic status of sibs. While continuing homoccistinuria normal diet, plasma is obtained for baseline measurements of total homocysteine and amino acids. Genes and Databases for chromosome locus and protein.

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