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Beta-Methylcrotonylglycinuria

MedGen UID:
417702
•Concept ID:
C2827494
•
Disease or Syndrome
Synonym: Beta-methylcrotonyglycinuria (Types I or II)

Definition

A very rare metabolic disorder characterized by an inborn error in the leucine degradation pathway. Patients excrete large amounts of beta-methyl-crotonylglycine in the urine. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeta-Methylcrotonylglycinuria

Recent clinical studies

Diagnosis

Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.
Eldjarn L, Jellum E, Stokke O, Pande H, Waaler PE
Lancet 1970 Sep 5;2(7671):521-2. doi: 10.1016/s0140-6736(70)90140-6. PMID: 4194964

Therapy

Child with a defect in leucine metabolism associated with beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria.
Gompertz D, Bartlett K, Blair D, Stern CM
Arch Dis Child 1973 Dec;48(12):975-7. doi: 10.1136/adc.48.12.975. PMID: 4765660Free PMC Article
Evidence for the enzymic defect in beta-methylcrotonylglycinuria.
Gompertz D, Goodey PA, Bartlett K
FEBS Lett 1973 May 15;32(1):13-4. doi: 10.1016/0014-5793(73)80723-9. PMID: 4715674
Biotin-responsive beta-methylcrotonylglycinuria.
Gompertz D, Draffan GH, Watts JL, Hull D
Lancet 1971 Jul 3;2(7714):22-4. doi: 10.1016/s0140-6736(71)90009-2. PMID: 4103667

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