3 methylglutaconic aciduria type 1

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This 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

TREATMENT

  • Recommendation 1

    Supportive Therapy Only

PRIMARY CARE

  • Recommendation 1

    Appropriate referral to specialists

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

  • Recommendation 1

    One clinical trial currently recruiting

Sources

No data available

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