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Combined Malonic and Methylmalonic Aciduria

Also Known As:

Cmamma

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Combined Malonic and Methylmalonic Aciduria: 6
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Combined Malonic and Methylmalonic Aciduria: 6

Related Diseases

1.	Combined Malonic and Methylmalonic Aciduria
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Methylmalonic acidemia

Experts

1.	Cai, Chunquan: 1 article (01/2021)
2.	Gu, Chunyu: 1 article (01/2021)
3.	Shu, Jianbo: 1 article (01/2021)
4.	Wang, Ping: 1 article (01/2021)
5.	Yu, Xiaoli: 1 article (01/2021)
6.	Zhang, Chunhua: 1 article (01/2021)
7.	Zheng, Jie: 1 article (01/2021)
8.	Jans, Judith J: 1 article (01/2016)
9.	Prinsen, Hubertus C M T: 1 article (01/2016)
10.	Verhoeven-Duif, Nanda M: 1 article (01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Combined Malonic and Methylmalonic Aciduria:

1.	Methylmalonic AcidIBA 09/01/2011 - "Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). " 01/01/2016 - "The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). "
2.	AcidsIBA 01/01/2021 - "To better characterize CMAMMA in a Chinese population, we made a multidimensional analysis with detailed clinical phenotype, semi-quantitative detection of urine organic acid, and analysis of ACSF3 gene variants. " 11/20/2023 - "Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids. "
3.	malonic acid (malonate)IBA 09/01/2011 - "Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). " 01/01/2016 - "The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). "
4.	Proteins (Proteins, Gene)FDA Link 11/20/2023 - "Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids. "
5.	Malonic aciduriaIBA 06/01/1998 - "Our data support a previous observation that combined malonic and methylmalonic aciduria has aetiologies other than malonyl-CoA decarboxylase deficiency. "
6.	malonyl-CoA synthetaseIBA 08/14/2011 - "We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA. "
7.	malonyl-CoA decarboxylaseIBA 06/01/1998 - "Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies."
8.	methylmalonyl-coenzyme A (methylmalonyl CoA)IBA 08/14/2011 - "We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA. "