Methylmalonic aciduria, vitamin B12 unresponsive (Q91378): Difference between revisions
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A acidemia metilmalônica não responsiva à vitamina B12 é um erro inato do metabolismo da vitamina B12, caracterizado por crises cetoacidóticas recorrentes ou vômitos transitórios, desidratação, hipotonia e deficiência intelectual, que não respondem à administração de vitamina B12. Existem dois tipos de acidemia metilmalônica sem resposta à vitamina B12: mut0 e MUT- (ver esses termos) | |||
| description / en | description / en | ||
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterised by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms). | |||
Revision as of 18:23, 15 August 2026
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterised by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1982871374 |
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| English | Methylmalonic aciduria, vitamin B12 unresponsive |
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterised by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms). |
