Methylmalonic aciduria - homocystinuria (Q86132): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A acidemia metilmalônica com homocistinúria é um erro inato do metabolismo da vitamina B12 caracterizado por anemia megaloblástica, letargia, deficiência de crescimento, atraso no desenvolvimento, déficit intelectual e convulsões. Existem três classes de complementação de defeitos da cobalamina (cblC, cblD e cblF) que são responsáveis pela acidemia metilmalônica - homocistinúria cblC, cblD e cblF. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms). | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1836722766 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1836722766 | |||||||||||||||
| Property / CURIE: CID11:ID_1836722766 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1836722766 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1836722766 / 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 | |||||||||||||||
Latest revision as of 11:29, 15 August 2026
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1836722766 |
||
| English | Methylmalonic aciduria - homocystinuria |
Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are three complementation classes of cobalamin defects (cblC, cblD and cblF) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD and cblF; see these terms). |
Statements
CID11:ID_1836722766
0 references
dki-india-ID_1836722766
0 references
Concluído
0 references
13 August 2026
0 references
