2-methylbutyryl-CoA dehydrogenase deficiency

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 :

• Avoid going a long time without food. Some infants and young children with 2MBCD deficiency need to eat frequently to prevent a metabolic crisis. A common feeding schedule might include feeding infants every 4 to 6 hours, around the clock.
• A low-protein diet, including medical foods and formula. The diet is typically heavy in carbohydrates (bread, cereal, pasta, fruit, vegetables, etc.). High protein foods (like milk and daily products, meat and poultry, fish, eggs, dried beans and legumes, nuts and peanut butter) should be avoided. Some vegetables and fruits have small amounts of protein; these should be carefully measured when included in the diet. Medical foods such as low-protein flours, pastas, and rice may be available. In addition, some children may be prescribed a special low-protein formula that does not include isoleucine.
• Medications. Some children may benefit from taking a supplement called L-carnitine. This supplement helps the cells make energy and rids the body of harmful wastes.
• Call on a healthcare provider at the start of any illness. Some children may need to implement a special plan for sick days (when the child can not or will not eat). This may include more carbohydrates and increased fluids.

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.

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.

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.

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.