Cystathioninuria (Q89150): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||||||||||||||
| (One intermediate revision by the same user not shown) | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest 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 |
||
| 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. |
Statements
CID11:ID_1415819835
0 references
dki-india-ID_1415819835
0 references
Concluído
0 references
13 August 2026
0 references
