Newborn Screening Codes

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids properly. Signs and symptoms of this condition usually appear in early infancy and include vomiting, dehydration, hypotonia, lethargy, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Methylmalonic acidemia is caused by mutations in the MMAA, MMAB, and MUT genes; it has an autosomal recessive pattern of inheritance.

Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and lipids properly. Signs and symptoms of this condition usually appear in early infancy and include vomiting, dehydration, hypotonia, lethargy, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Methylmalonic acidemia is caused by mutations in the MMAA, MMAB, and MUT genes; it has an autosomal recessive pattern of inheritance.

Names and Codes

Condition:1 Methylmalonic acidemia
Abbreviation:1 CBL B
Category:2 Core
SNOMED CT Code:3

82245003—Cobalamin B disease

UMLS CUI:4C0342722

ICD-9-CM Code:5

270.3—Disturbances of branched-chain amino-acid metabolism
ICD-10-CM Code:6

E71.120—Methylmalonic acidemia

Affected Protein Names and Codes

Enzyme Commission Number:7

5.4.99.2External Web Site Policy—Methylmalonyl-CoA mutase
UniProt Number:8

P22033External Web Site Policy—Methylmalonyl-CoA mutase, mitochondrial

Analytes or Measurements

More Information

Record created: December 19, 2008

Record last updated: April 20, 2011

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