Hereditary orotic aciduria (Q39496): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A acidúria orótica hereditária é uma doença autossômica recessiva extremamente rara (menos de 20 casos identificados em todo o mundo) caracterizada por atraso de crescimento , anemia e excreção urinária excessiva de ácido orótico. É devida a uma deficiência grave na atividade da enzima da via da pirimidina uridina 5'-monofosfato sintase (enzima bifuncional contendo duas atividades: orotato fosforibosiltransferase e orotidina-5'-fosfato descarboxilase, codificada por um único gene (UMPS) localizado no cromossomo 3q13. | |||
| description / en | description / en | ||
Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13. | |||
Revision as of 04:56, 13 August 2026
Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 3A03.0 |
||
| English | Hereditary orotic aciduria |
Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterised by retarded growth, anaemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localised to chromosome 3q13. |
