Methylmalonic aciduria - homocystinuria (Q86132): Difference between revisions

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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).