Methylmalonic aciduria - homocystinuria type cbl C (Q101512): Difference between revisions
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A acidemia metilmalônica do tipo cbl C com homocistinúria é uma forma de acidemia metilmalônica com homocistinúria, um erro inato do metabolismo da vitamina B12 caracterizado por anemia megaloblástica, letargia, deficiência de crescimento, atraso no desenvolvimento, déficit intelectual e convulsões. | |||
| description / en | description / en | ||
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. | |||
Revision as of 18:19, 16 August 2026
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1633413170 |
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| English | Methylmalonic aciduria - homocystinuria type cbl C |
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterised by megaloblastic anaemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. |
