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Methylmalonic Acid - MedlinePlus Genetics

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Last Updated: 23 April 2022

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Combined malonic and methylmalonic aciduria

High amounts of combined malonic acid and methylmalonic aciduria in the body are characteristic of a condition marked by elevated levels of certain chemicals, such as malonic acid and methylmalonic acid. While both are elevated, methylmalonic acid and malonic acid in the urine are a distinguishing feature of this disorder. CMAMMA can be found in childhood and can develop in children. Other people with CMAMMA do not have signs and symptoms until adulthood.

Source link: https://medlineplus.gov/genetics/condition/combined-malonic-and-methylmalonic-aciduria


Succinate-CoA ligase deficiency

Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body organs. Many of the children's also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently. Most children with succinate-CoA ligase deficiency also have a failure to thrive, which means they gain weight and grow more slowly than expected. Succinate-CoA ligase deficiency causes breathing difficulties that can often lead to recurrent respiratory tract infections. These infections can be life-threatening, and the majority of people with succinate-CoA ligase deficiency live only in childhood or adolescence. A newer form of the condition known as fatal infantile lactic acidosis has been present in a few people with succinate-CoA ligase deficiency. Most children with lethal infantile lactic acidosis die only a few days after birth.

Source link: https://medlineplus.gov/genetics/condition/succinate-coa-ligase-deficiency

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions