About Combined Malonic and Methylmalonic Acidemia

Combined Malonic and Methylmalonic Aciduria, also known as combined malonic and methylmalonic acidemia, is related to isolated methylmalonic acidemia and methylmalonic acidemia. An important gene associated with Combined Malonic and Methylmalonic Aciduria is ACSF3 (Acyl-CoA Synthetase Family Member 3), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include brain, and related phenotypes are methylmalonic aciduria and methylmalonic acidemia

Major Symptoms of Combined Malonic and Methylmalonic Acidemia

Combined malonic and methylmalonic acidemia (CMMA) is a rare genetic disorder that affects the metabolism of methylmalonyl-CoA, a crucial molecule for the metabolism of fatty acids. The major symptoms of CMMA include hyperkalemia (high potassium levels), myopathy ( muscle weakness and dysfunction), and gastrointestinal issues such as constipation and abdominal pain. Additionally, individuals with CMMA may experience cognitive impairments, such as memory and learning difficulties, and may have a decreased lifespan due to the effects of the disorder on the body's cellular functions.

Suitable Lifestyle for People with Combined Malonic and Methylmalonic Acidemia

An appropriate lifestyle approach for patients with Combined malonic and methylmalonic acidemia is to maintain a regular diet and exercise. The disease often results in metabolic disorders and malnutrition, so patients need to ensure they are getting enough nutrients to support good health. Additionally, patients may need to follow their doctor's treatment recommendations and receive medications as directed by their doctor. During treatment, patients should also pay attention to maintaining a good mood and avoiding overwork and fatigue to help the body recover.

Other Diseases

Methylmalonic AcidemiaIsovaleric AcidemiaCblC Type Methylmalonic Aciduria and HomocystinuriaFamilial Combined HyperlipidemiaCombined Pituitary Hormone DeficiencyCombined Deficiency of Factor V and Factor VIIICommon ColdCommon Variable ImmunodeficiencyCommunication DisordersCompartment SyndromeConduct DisorderCone DystrophyCongenital Absence of Vas DeferensCongenital Adrenal HyperplasiaCongenital Adrenal Hyperplasia 1Congenital AfibrinogenemiaCongenital AniridiaCongenital Bilateral Absence of Vas DeferensCongenital Bile Acid Synthesis DefectCongenital Central Hypoventilation Syndrome