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| Disease found: | 3 methylglutaconic aciduria type 1 |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inborn error of leucine metabolism with a variable clinical phenotype [more info] |
| Signs and Symptoms: | Failure to thrive, speech delay, global developmental delay, abnormality of the basal ganglia, coma, dystonia, hepatomegaly, microcephaly [more info] |
| Diagnosis: | Sequencing to detect single nucleotide and copy number variants in 17 genes associated with 3-methylglutaconic aciduria [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Appropriate referral to specialists [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: | One clinical trial currently recruiting |