Glycerol kinase deficiency - contiguous gene syndrome (Q98873): Difference between revisions
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| description / pt-br | description / pt-br | ||
Trata-se de um defeito enzimático recesivo ligado ao X de natureza heterozigótica. Foram descritas três formas clínicas distintas desta deficiência, chamadas de infantil, juvenil e forma adulta. É caracterizado por uma síndrome causada por anormalidades de 2 ou mais genes que estão localizados próximos um do outro em um cromossomo. | |||
| description / en | description / en | ||
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome. | |||
Revision as of 15:31, 16 August 2026
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_833383989 |
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| English | Glycerol kinase deficiency - contiguous gene syndrome |
This is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. This diagnosis is with a syndrome caused by abnormalities of 2 or more genes that are located next to each other on a chromosome. |
