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Methylmalonic Acidemia

The methylmalonic acidemias are a family of disorders characterized by deficient activity of mitochondrial methylmalonyl-CoA mutase. This inborn error of organic acid metabolism leads to defects in organic acid, amino acid and lipid metabolism. Patients have a characteristic facies that includes a high forehead, broad nasal bridge and a long, smooth filtrum. Affected infants often [...]

+ Mutation-specific testing   + Prenatal testing

The methylmalonic acidemias are a family of disorders characterized by deficient activity of mitochondrial methylmalonyl-CoA mutase. This inborn error of organic acid metabolism leads to defects in organic acid, amino acid and lipid metabolism. Patients have a characteristic facies that includes a high forehead, broad nasal bridge and a long, smooth filtrum. Affected infants often have recurrence of acute illness with metabolic acidosis, vomiting, failure to thrive, lethargy, hypotonia, hepatomegaly, seizures and respiratory distress. The most severe clinical presentation is in the neonatal period and can result in death. The disorder may also have a later onset, in the first months or years or less commonly in early childhood. An adult form can have a benign course with a mild biochemical defect; however these individuals are at risk for acute metabolic decompensation. Complications of methylmalonic acidemia include mental retardation, nephritis, chronic renal tubular acidosis, metabolic stroke, pancreatitis, growth failure and functional immune impairment.

+ Mutation-specific testing   + Prenatal testing

Tests Available

Methylmalonic Acidemia, Cobalamin Metabolism and Related Disorders Sequencing Panel

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MTR, MTRR, MUT, SUCLA2, SUCLG1
Clinical Utility:
  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having an inborn error of metabolism associated with methylmalonic acidemia and/or hyperhomocysteinemia/homocystinuria
  • As a substitute for complementation analysis
  • Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies.
Lab Method:
Next-gen Sequencing

ORDERING

Test Code:
667
Turnaround Time:
9-10 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81479x1
List Price:
$3,200.00
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 277.8: Other specified disorders of metabolism
  • 270.7: Other disturbances of straight-chain amino-acid metabolism, Glucoglycinuria, Glycinemia (with methylmalonic acidemia), Hyperglycinemia, Hyperlysinemia, Pipecolic acidemia, Saccharopinuria, Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine
  • 276.2: Acidosis Acidosis
  • 796.6: Abnormal findings on neonatal screening
  • 270.9: Unspecified disorder of amino-acid metabolism
  • 270.4: Disturbances of sulphur-bearing amino-acid metabolism, Cystathioninemia, Cystathioninuria, Disturbances of metabolism of methionine, homocystine, and cystathionine Homocystinuria, Hypermethioninemia, Methioninemia

REFERENCES

  1. Manoli, I. and Venditti, C., (Updated [Sept. 28, 2010]). Methylmalonic Acidemia. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997- 2011. Available at http://www.genetests.org
  2. Adams, D. and Venditti, C., (Updated [August 11, 2009]). Disorders of Intracellular Cobalamin Metabolism. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2011. Available at http://www.genetests.org
  3. Miousse et al., (2009) J Pediatr 154:551-556.
  4. Rutsch et al., (2009) Nature Genetics 41:234-239.
  5. Quadros et al., (2010) Hum Mutat 31:924-929.
  6. Bennett S.(2004) Pharmacogenomics 5:433-8.
  7. Worgan, et al., (2006) Hum Mutat 27:31-43.
  8. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516.
  9. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87 :219-225.
  10. Lerner-Ellis et al., (2009) Hum Mutat 30:1072-1081.
  11. Alfares et al., (2011) J Med Genet 48:602-605.
  12. Sloan et al., (2011) Nat Genet 43:883-886.
  13. Salomons et al., (2007) J Inherit Metab Dis 30:23- 28.

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