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 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.

Tests Available

Forms and Documents

Test Details

MMAA
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

276
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 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
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43

Forms and Documents

Test Details

MMAB
  • 1. Confirmation of a biochemical diagnosis
  • 2. Carrier testing
  • 3. Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

277
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81405x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 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
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  3. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  4. Worgan, LC et al., (2006) Hum Mut 27:31-43
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY

Forms and Documents

Test Details

MUT
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2753
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 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
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  2. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  3. Worgan, LC et al., (2006) Hum Mut 27:31-43
  4. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  5. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  6. Merinero et al., (2008) J Inherit Metab Dis 31:55-66

Forms and Documents

Test Details

MUT
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2752
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81406x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 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
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Merinero et al., (2008) J Inherit Metab Dis 31:55-66
  2. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  3. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  4. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  5. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  6. Worgan, LC et al., (2006) Hum Mut 27:31-43

Forms and Documents

Test Details

MUT
  • Confirmation of a biochemical diagnosis
  • Carrier testing
  • Prenatal diagnosis in at risk pregnancies
  • Capillary Sequencing

Ordering

2754
4-5 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
No
Yes
  • 276.2 Acidosis Acidosis
  • 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
  • 277.8 Other specified disorders of metabolism
* For price inquiries please email zebras@genedx.com

References

  1. Worgan, LC et al., (2006) Hum Mut 27:31-43
  2. Coulombe J.T et al., (1981) Pediatrics 67:26-31
  3. Nyhan, WL, Barshop, BA, Ozand, PT (2005) Atlas of Metabolic Diseases Oxford University Press. NY
  4. Lerner-Ellis, J.P. et al., (2004) Hum Mut 24:509-516
  5. Lerner-Ellis, J.P. et al., (2006) Mol Genet Metab 87:219-225
  6. Merinero et al., (2008) J Inherit Metab Dis 31:55-66

Forms and Documents

Test Details

ABCD4, ACSF3, AMN, CD320, CUBN, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MTR, MTRR, MUT, SUCLA2, SUCLG1, TCN2
  • 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.
  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Ordering

T011
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81404x1; 81405x2; 81406x1, 81479x1
No
Yes
* For price inquiries please email zebras@genedx.com

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.
  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.
  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.