Primary care
Recommendation 1
Appropriate referral to specialists
3 methylglutaconic aciduria type 1
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Inborn error of leucine metabolism with a variable clinical phenotype
Common symptoms
Failure to thrivespeech delayglobal developmental delayabnormality of the basal gangliacomadystoniahepatomegalymicrocephaly
When to suspect
Recommendation 1
Sequencing to detect single nucleotide and copy number variants in 17 genes associated with 3-methylglutaconic aciduria
How to test
Recommendation 1
Sequencing to detect single nucleotide and copy number variants in 17 genes associated with 3-methylglutaconic aciduria
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Supportive Therapy Only
Further support
Recommendation 1
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
Clinical Trials
Sources
No data available
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