Cystathioninuria (Q89150): Difference between revisions
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A cistationinúria é uma doença autossômica recessiva causada pela deficiência de cistationina gama-liase. Geralmente é dependente da piridoxina, mas em casos muito raros pode ser não dependente. Geralmente é considerada uma condição benigna sem relevância patogênica. No entanto, a associação de cistationinúria com deficiência intelectual foi relatada em vários casos. | |||
| description / en | description / en | ||
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. | |||
Revision as of 15:42, 15 August 2026
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1415819835 |
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| English | Cystathioninuria |
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. |
