Methylmalonic Acidemia - Symptoms, Causes, Treatment | NORD
2024年5月17日 · Methylmalonic acidemia (MMA) is a group of genetic disorders in which the body can’t breakdown (metabolize) proteins and fats properly. This results in an abnormally high level of acid in the blood (acidemia) and body tissues. This …
About Methylmalonic Acidemia - National Human Genome …
2012年4月20日 · What is methylmalonic acidemia? Methylmalonic acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly. People with this disease can't change, or "metabolize," a substance called called methymalonyl-coenzyme A.
可治性罕见病—甲基丙二酸血症 (methymalonic acidemia，MMA…
2020年11月16日 · 甲基丙二酸血症(methymalonic acidemia，MMA)是一种常染色体隐性遗传病，主要是由于甲基丙二酰辅酶A变位酶自身缺陷或其 辅酶钴胺素 ( cobalamin，cbl，VitBi：)代谢缺陷，导致甲基丙二酸、 3-羟基丙酸 及甲基枸橼酸等代谢物异常蓄积引起的疾病‘1]。根据酶缺陷类 …
Methylmalonic acidemia - UpToDate
2023年10月12日 · Methylmalonic acidemia (MMA) or methylmalonic aciduria, simply, is the elevation of methylmalonic acid in the blood and/or the urine (generally it is seen in both). This may occur alone or in combination with other biochemical abnormalities such as elevation of homocysteine and low methionine.
Methylmalonic acidemia | About the Disease | GARD - Genetic …
A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening.
Methylmalonic acidemia - MedlinePlus
Methylmalonic acidemia is a group of inherited disorders that prevent the body from breaking down proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening.
Guidelines for the diagnosis and management of methylmalonic acidaemia ...
Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first time.
Methylmalonic Acidemia (MMA) - Children's Hospital of Philadelphia
What is methylmalonic acidemia? Methylmalonic acidemia (MMA) is a rare, genetic disorder of the liver. People with this condition are unable to produce an enzyme that is needed to break down and use certain proteins and fats found in food.
Methylmalonic acidemias - Wikipedia
Methylmalonic acidemias, also called methylmalonic acidurias, [note 1] are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats. [1] . This leads to a buildup of a toxic level of methylmalonic acid in body liquids and tissues.
甲基丙二酸血症：症状与体征、病因、流行病学、诊断与治疗@Me…
2022年8月25日 · 甲基丙二酸血症(methylmalonic acidemia，MMA)又称甲基丙二酸尿症(Methylmalonic aciduria)，是我国最常见的常染色体隐性遗传的有机酸代谢病。 MMA 由甲基丙二酰辅酶 A 变位酶(methylmalonyl CoA mutase，MCM)或其辅酶钴胺素(cobalamin， Cbl；也即维生素 B12，VitB12) 代谢缺陷所导致。