E71.120 - Methylmalonic acidemia

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:

• Adenosylcobalamin and methylcobalamin synthesis defect
• Adenosylcobalamin synthesis defect
• Cobalamin A disease
• Cobalamin B disease
• Cobalamin C disease
• Cobalamin D disease
• Fatal infantile lactic acidosis with methylmalonic aciduria
• Homocystinuria
• Inherited methylmalonic acidemia AND homocystinuria
• Methylmalonic acidemia
• Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
• Methylmalonic aciduria due to transcobalamin receptor defect
• Mitochondrial DNA depletion syndrome encephalomyopathic form

Clinical Information

• Homocystinuria-. autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine. clinical features include a tall slender habitus, scoliosis, arachnodactyly, muscle weakness, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of mental retardation, and a tendency to develop fibrosis of arteries, frequently complicated by cerebrovascular accidents and myocardial infarction. (from adams et al., principles of neurology, 6th ed, p979)
• Arakawa Syndrome II|Arakawa's Syndrome 2|Arakawa's Syndrome II|Homocystinuria-Megaloblastic Anemia, cblG Complementation Type|Methionine Synthase Deficiency|Methylcobalamin Deficiency, cblG Type|Tetrahydrofolate Methyltransferase Deficiency|Tetrahydrofolate Methyltransferase Deficiency-. a rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. it results in the abnormal metabolism of methylcobalamin. signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
• Homocystinuria-. an autosomal recessive inherited metabolic disorder caused by mutations in the cbs, mthfr, mtr, and mtrr genes. it is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. it results in the accumulation of homocysteine in the serum. it may affect the cardiovascular, musculoskeletal and the central nervous systems.
• Homocystinuria-Megaloblastic Anemia, cblE Complementation Type|HMAE|Methylcobalamin Deficiency, cblE Type-. an autosomal recessive condition caused by mutation(s) in the mtrr gene, encoding methionine synthase reductase. it is characterized by homocystinuria and megaloblastic anemia.
• Methylmalonic Aciduria and Homocystinuria Type D Protein, Mitochondrial|C2orf25 Protein|MMADHC|Methylmalonic Aciduria, cblD Type, And Homocystinuria Protein|Uncharacterized Protein C2orf25, Mitochondrial-. methylmalonic aciduria and homocystinuria type d protein, mitochondrial (296 aa, ~33 kda) is encoded by the human mmadhc gene. this protein plays a role in vitamin metabolism.
• Methylmalonic Aciduria and Homocystinuria, cblC Type-. an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the mmachc gene, encoding methylmalonic aciduria and homocystinuria type c protein.
• Methylmalonic Aciduria and Homocystinuria, cblD Type|MAHCD-. an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the mmadhc gene, encoding cobalamin trafficking protein cbld.
• Methylmalonic Aciduria and Homocystinuria, cblF Type|MAHCF-. an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the lmbrd1 gene, encoding lysosomal cobalamin transport escort protein lmbd1.
• Methylmalonic Aciduria and Homocystinuria, cblJ Type|MAHCJ-. an autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the abcd4 gene, encoding lysosomal cobalamin transporter abcd4.
• MMADHC Gene|MMADHC|MMADHC|Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria Gene-. this gene is involved in vitamin metabolism.
• MMADHC wt Allele|C2orf25|CL25022|Chromosome 2 Open Reading Frame 25 Gene|HSPC161|Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria wt Allele|Methylmalonic Aciduria, cblD Type, and Homocystinuria Gene|My011|cblD-. human mmadhc wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. this allele, which encodes methylmalonic aciduria and homocystinuria type d protein, mitochondrial, plays a role in the mediation of vitamin b12 metabolism. mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria.

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Patient Education

Metabolic Disorders

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.

Methylmalonic acidemia

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

Code History

• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016 (First year ICD-10-CM implemented into the HIPAA code set)