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Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
Although methylmalonic acidemia has a variety of causes, both genetic and dietary, methylmalonyl CoA mutase deficiency is an autosomal recessive genetic disorder. Patients with the deficiency either have a complete gene lesion, designated as mut0 or a partial mutation in the form of a frameshift designated as mut-.
Elevated methylmalonic acid levels may also indicate a deficiency. [2] Individuals with low or marginal values of vitamin B 12 in the range of 148–221 pmol/L (200–300 pg/mL) may not have classic neurological or hematological signs or symptoms.
Methylmalonic acid is elevated in 90–98% of patients with vitamin B 12 deficiency. It has lower specificity since 20–25% of patients over the age of 70 have elevated levels of methylmalonic acid, but 25–33% of them do not have B 12 deficiency. For this reason, the testing of methylmalonic acid levels is not routinely recommended in the ...
A measurement of methylmalonic acid (methylmalonate) can provide an indirect method for partially differentiating Vitamin B 12 and folate deficiencies. The level of methylmalonic acid is not elevated in folic acid deficiency.
Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. [1] These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived ...
One approach to reduce the accumulating amount of malonic acid and methylmalonic acid is diet. According to the state of knowledge in 1998, a high-carbohydrate and low-protein diet is recommended. [8] Changes in malonic acid and methylmalonic acid excretion can be seen as early as 24-36 h after a change in diet. [8]
As both malonic acid and methylmalonic acid levels are elevated in malonic aciduria, it used to be referred to as combined malonic and methylmalonic aciduria (CMAMMA). Although ACSF3 deficiency was not discovered until later, the term combined malonic and methylmalonic aciduria has now become established in medical databases for ACSF3 deficiency.