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| Disease found: | 3-alpha hydroxyacyl-CoA dehydrogenase deficiency |
| Current as of: | October 8, 2024 |
| Disease Overview: | A rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting) [more info] |
| Signs and Symptoms: | Lethargy, hypoglycemia, hypotonia, delayed development of milestones, liver problems, myopia, rhabdomyolysis [more info] |
| Diagnosis: | Tandem mass spectrometry (MS/MS) [more info] |
| Treatment: | Therapy includes fasting avoidance, a diet restricted in long-chain fatty acids and supplemented with both medium chain triglycerides (MCT) and essential fatty acids. [more info] |
| Clinical Management: | Dietary restriction and Dietary adherence [more info] |
| Referral: | Mito Action Foundation reccomends various 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 |