Don’t fight 2-methylbutyryl-CoA dehydrogenase deficiency alone.
Find your community on the free RareGuru App.2-methylbutyryl-CoA dehydrogenase deficiency is an organic acid disorder in which individuals lack adequate levels of an enzyme called 2-methylbutyryl- CoA dehydrogenase. This enzyme assists in the processing of a particular amino acid called isoleucine. The inability to process isoleucine correctly leads to the buildup of the amino acid in the body. The buildup can cause a variety of health problems, which vary widely from severe and life-threatening to mild or absent. Signs and symptoms of the disorder can begin a few days after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy, vomiting, and irritability. These symptoms sometimes progress to serious medical problems such as difficulty breathing, seizures, and coma.[ This condition is caused by mutations in the ACADSB gene. It is inherited in an autosomal recessive pattern. Treatment, when needed, includes a low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs.
Source: GARD Last updated on 05-01-20
The main purpose for diet modifications with 2MBCD deficiency is to avoid hypoglycemia and metabolic crises. Some children with the condition never show any symptoms and don't require treatment. Babies and children that do exhibit symptoms may need lifelong treatment. Each child with this condition should work closely with a metabolic physician and dietician so that a personalized nutrition plan can be created.
The following are general guidelines that may apply to some children with 2MBCD deficiency :
Last updated on 05-01-20
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on organic acidemias.
Last updated on 04-27-20
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Last updated on 04-27-20
Matern, et al. Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry . Pediatrics , Jul 2003;112:74-78.
Last updated on 04-27-20
The Save Babies Through Screening Foundation, Inc. has an information page on 2-Methylbutyryl-Co A dehydrogenase deficiency. Click on the link above to view the information page.
Last updated on 04-27-20
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