2024 ICD-10-CM Diagnosis Code E72.12

Approximate Synonyms

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

• 5,10-Methylenetetrahydrofolate reductase deficiency
• Heterozygous methylenetetrahydrofolate reductase mutation
• Homocystinuria
• Homozygous methylenetetrahydrofolate reductase mutation
• Inherited disorder of folate metabolism
• Inherited disorder of folate metabolism
• Methylene THF reductase deficiency AND homocystinuria

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.

Convert E72.12 to ICD-9-CM

• ICD-9-CM Code: 270.4 - Sulph amino-acid met dis
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

Amino Acid Metabolism Disorders

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks 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. If you have a metabolic disorder, something goes wrong with this process.

One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

[Learn More in MedlinePlus]

Homocystinuria

Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. 

The most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.

Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).

The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.

[Learn More in MedlinePlus]

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• 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. This was the first year ICD-10-CM was implemented into the HIPAA code set.