Methylmalonic acidemia with homocystinuria

A hereditary autosomal recessive disorder of VITAMIN B12 metabolism that is characterized by variable phenotypes including INTELLECTUAL DISABILITY, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings may also occur. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood. Caused by mutations in the MMACHC gene. OMIM: 277400

Also Known As:

Networked: 23 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Methylmalonic acidemia
2.	Propionic Acidemia
3.	Inborn Genetic Diseases (Disease, Hereditary)
4.	Hyperhomocysteinemia
5.	Homocystinuria

Experts

1.	Lerner-Ellis, Jordan P: 3 articles (07/2009 - 01/2006)
2.	Morel, Chantal F: 3 articles (07/2009 - 01/2006)
3.	Rosenblatt, David S: 3 articles (07/2009 - 01/2006)
4.	Caterino, Marianna: 2 articles (09/2015 - 06/2015)
5.	Ingenito, Laura: 2 articles (09/2015 - 06/2015)
6.	Ruoppolo, Margherita: 2 articles (09/2015 - 06/2015)
7.	Scolamiero, Emanuela: 2 articles (09/2015 - 06/2015)
8.	Fowler, Brian: 2 articles (01/2013 - 07/2009)
9.	Carrillo-Carrasco, Nuria: 2 articles (01/2012 - 01/2012)
10.	Venditti, Charles P: 2 articles (01/2012 - 01/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Methylmalonic acidemia with homocystinuria:

1.	Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric 05/01/2023 - "Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. " 01/21/2023 - "Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. " 12/01/2021 - "Combined methylmalonic aciduria and homocystinuria, cblC type, (MAHCC) is a rare autosomal recessive metabolic disorder of remethylation caused due to mutations in the MMACHC (metabolism of cobalamin associated C) gene with predominant neurological involvement. " 12/01/2020 - "Combined methylmalonic acidemia and homocystinuria, cblC type, is the most common inherited disorder of cobalamin metabolism and is characterized by severe fetal developmental defects primarily impacting the central nervous system, hematopoietic system, and heart. " 12/01/2016 - "Cobalamin C disease (cblC), which leads to methylmalonic acidemia with homocystinuria, is the most common inherited disorder of vitamin B12 metabolism. "
2.	Methionine (L-Methionine)FDA Link 02/01/2010 - "Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte." 01/01/2022 - "Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. "
3.	cobamamide (adenosylcobalamin)IBA 08/01/2006 - "Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl). " 01/01/2015 - "Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. "
4.	Glutamate Formimidoyltransferase (Glutamate Formiminotransferase)IBA 06/01/2015 - "Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. "
5.	DNA (Deoxyribonucleic Acid)IBA 01/01/2007 - "DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay."
6.	Branched-Chain Amino AcidsIBA 06/01/2015 - "Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. "
7.	AcidsIBA 02/01/2023 - "Methylmalonic acidemia with homocystinuria (MMA-cblC) is an autosomal recessive genetic disorder of organic acid metabolism. "
8.	Beta ketothiolase deficiencyIBA 06/01/2015 - "Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. "
9.	mecobalamin (methylcobalamin)IBA 01/01/2015 - "Methylmalonic aciduria and homocystinuria, cblC type, is the most common disorder of intracellular vitamin B12 (cobalamin, cbl) metabolism, which results in impaired biosynthesis of methylcobalamin and adenosylcobalamin. "