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

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

Methylmalonic aciduria, cblB type is an inherited metabolic disorder affecting multiple organ systems, most the metabolic and cardiovascular systems,...

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

Mevalonate kinase deficiency is a condition that arises from alterations in the MVK gene, which plays a critical role in metabolic pathways. Although...

Mevalonic aciduria is a severe metabolic condition that falls within the spectrum of mevalonate kinase deficiency and affects multiple organ systems,...

MGAT2-congenital disorder of glycosylation is a very rare inherited condition affecting multiple systems, particularly impacting neurological developm...

Information about the overall description of this condition is currently limited for this condition. MGP-related spondyloepiphyseal dysplasia is a rar...

MHC class I deficiency is a very rare, primary genetic immunodeficiency caused by a defect in the expression of human leukocyte antigen (HLA) class I....