Methylmalonic aciduria - homocystinuria (Q86132): Difference between revisions
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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). | |||
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 |
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| 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). |
