Rare Disease Intelligence

Methotrexate toxicity refers to adverse effects that occur due to exposure to the medication methotrexate, a drug used to treat various conditions suc...

Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoid proliferations that occur in patients receiving me...

Methylcobalamin deficiency type cblDv1, also known as functional methionine synthase deficiency type cblDv1, is a metabolic condition in which the act...

Methylmalonate semialdehyde dehydrogenase deficiency is a metabolic condition that affects multiple systems, with a range of characteristic neurologic...

Methylmalonic acidemia is a genetically heterogeneous disorder characterized by metabolic abnormalities affecting lipid and protein metabolism. It is...

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare metabolic disorder characterized by a persistent elevation of methylmal...

Methylmalonic acidemia due to transcobalamin receptor defect is a rare disorder affecting how the body absorbs and transports vitamin B12. Because of...

Methylmalonic acidemia with homocystinuria, type cblJ is a complex metabolic disorder that affects multiple organ systems. It is associated with impai...

Methylmalonic acidemia with homocystinuria, type cblX is a rare metabolic disorder that affects multiple organ systems, particularly the central nervo...

Methylmalonic aciduria and homocystinuria is an inborn error of vitamin B12 metabolism that disrupts the production of the active cofactors adenosylco...

Methylmalonic aciduria and homocystinuria type cblC is a metabolic disorder affecting vitamin B12 metabolism, characterized by combined methylmalonic...

Methylmalonic aciduria and homocystinuria type cblD is an inherited metabolic disorder that disrupts vitamin B12 (cobalamin) metabolism, leading to a...

Methylmalonic aciduria and homocystinuria type cblF is an inherited metabolic disorder that affects vitamin B12 metabolism, leading to abnormalities i...

Methylmalonic aciduria and homocystinuria, cb1L type is a condition that appears to affect metabolic processes, though specific details about its over...

Methylmalonic aciduria and/or homocystinuria, cblD type is an inborn error of cobalamin metabolism that results from biallelic variants in the MMADHC...

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency is an inborn error of vitamin B12 metabolism that affects the body’s ability to proc...