Sarcosinaemia (Q40024): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (7 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A sarcosinemia é um distúrbio metabólico caracterizado por um aumento da concentração de sarcosina no plasma e na urina devido à deficiência de sarcosina desidrogenase. A prevalência foi estimada em 1: 28.000 a 1: 350.000 em programas de triagem neonatal. A sarcosinemia é provavelmente uma condição benigna sem problemas clínicos significativos. É transmitido de forma autossômica recessiva. Mutações no gene da sarcosina desidrogenase, localizado no cromossomo 9q34, foram associadas a essa deficiência. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Sarcosinaemia is a metabolic disorder characterised by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening programs. Sarcosinaemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner. Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34, have been associated with this deficiency. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1901733714 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:5C50.71 | |||||||||||||||
| Property / CURIE: CID11:5C50.71 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-5C50.71 | |||||||||||||||
| Property / Canary Token: dki-india-5C50.71 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| 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 | |||||||||||||||
| Property / Linked ICD 10 | |||||||||||||||
| Property / Linked ICD 10: E72.5 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 05:40, 13 August 2026
Sarcosinaemia is a metabolic disorder characterised by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening programs. Sarcosinaemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner. Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34, have been associated with this deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.71 |
||
| English | Sarcosinaemia |
Sarcosinaemia is a metabolic disorder characterised by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. Prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening programs. Sarcosinaemia is most probably a benign condition without significant clinical problems. It is transmitted in an autosomal recessive manner. Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34, have been associated with this deficiency. |
Statements
CID11:5C50.71
0 references
dki-india-5C50.71
0 references
Concluído
0 references
13 August 2026
0 references
