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| Disease found: | 2-methylbutyryl-CoA dehydrogenase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | Autosomal rescessive condition in which individuals lack adequate levels of 2-methylbutyryl-CoA dehydrogenase, which assists in the processing of isoleucine leading to the buildup of the amino acid. [more info] |
| Signs and Symptoms: | 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. [more info] |
| Diagnosis: | Routine tandem mass spectrometry-based newborn screening and genetic testing for mutation of ACADSB gene [more info] |
| Treatment: | A low-protein diet, specialty formulas, foods and supplements, and careful observation if illness occurs [more info] |
| Clinical Management: | Dietary restrictions, supplements, and amagement of acute symptoms [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |