3-methylglutacon aciduria

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Classification according to ICD-10
E71.1 Other disorders of the metabolism of branched amino acids
ICD-10 online (WHO version 2019)

The 3-Methylglutaconazidurie (MGA) is a group of very rare congenital metabolic disorders with the main feature a constant and significant increase in excretion of 3-methylglutaric acid in the urine .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is - with one exception - autosomal - recessive .

Classification

Depending on the underlying genetic disorder, the following types can be distinguished:

  • 3-methylglutaconaciduria type 1 , synonyms: 3-methylglutaconyl-CoA hydratase deficiency; 3MG-coA hydratase deficiency; MGA type I; MgÀ1 , autosomal - recessive (AR), mutations in the AUH - gene in the chromosome 9 at locus q22.31.
  • 3-methylglutaconaciduria type 2 , synonyms: Barth syndrome ; 3-methylglutaconic aciduria type 2; BTHS; Cardioskeletal Myopathy - Neutropenia, X-Linked; Cardioskeletal myopathy-neutropenia syndrome; MGA2; X-linked cardioskeletal myopathy and neutropenia , X-linked recessive, mutations in the TAZ gene in the X chromosome at locus q28
  • 3-methylglutaconaciduria type 3 , synonyms: Costeff syndrome ; MGA 3; Optic atrophy, autosomal recessive, type 3; Optic atrophy, infantile, with chorea and spastic paraplegia; Optic atrophy syndrome Costeff type; Optic atrophy plus syndrome , AR, mutations in the OPA3 gene in chromosome 19 at locus q13.32
  • 3-methylglutaconic aciduria type 4 , synonyms: MGA 4 , AR
  • 3-methylglutaconic aciduria type 5 , synonyms: MGA 5 , AR, mutations in the DNAJC19 gene in chromosome 3 at locus q26.33
  • 3-methylglutaconic aciduria type 6 , AR, mutations in the SERAC1 gene in chromosome 6 at locus q25.3
  • 3-methylglutaconaciduria type 7 , synonyms: 3-methylglutaconaciduria-cataract-neurological involvement-neutropenia syndrome; MGA7 , AR, mutations in the CLPB gene in chromosome 11 at locus q13.4

In 2013, SB Wortmann et al. Proposed the following classification:

  • "Primary form" corresponds to type 1 AUH defect due to impaired leucine breakdown
  • "Secondary forms"
    • "Disturbed phospholipid remodeling " corresponds to type 2 TAZ defect or Barth syndrome and type 6 SERAC1 defect or MEGDEL syndrome
    • "Disorders associated with the mitochondrial membrane" corresponds to type 3 OPA3 defect or Costeff syndrome, type 5 to DNAJC19 defect
    • "So far unspecified disorders (NOS) 3-MGA-uria" until the underlying pathomechanism is found

literature

  • T. Sato, K. Muroya, J. Hanakawa, R. Iwano, Y. Asakura, Y. Tanaka, K. Murayama, A. Ohtake, T. Hasegawa, M. Adachi: Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. In: European Journal of Pediatrics. Vol. 174, No. 12, December 2015, pp. 1593-1602, doi: 10.1007 / s00431-015-2576-7 , PMID 26074369 (review).

Individual evidence

  1. ^ Genetics Home Reference
  2. ↑ 3-methylglutaconic aciduria type 1. In: Orphanet (database for rare diseases).
  3. ↑ 3-methylglutaconic aciduria, type I.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Barth syndrome. In: Orphanet (Rare Disease Database).
  5. ↑ Barth syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ 3-methylglutaconic aciduria type 3. In: Orphanet (database for rare diseases).
  7. ↑ 3-methylglutaconic aciduria, type III.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ 3-methylglutaconic aciduria type 4. In: Orphanet (database for rare diseases).
  9. ↑ Cardiomyopathy, dilated ataxia. In: Orphanet (Rare Disease Database).
  10. ↑ 3-methylglutaconic aciduria, type V.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ MEGDEL syndrome. In: Orphanet (Rare Disease Database).
  12. ↑ 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.  In: Online Mendelian Inheritance in Man . (English)
  13. ↑ 3-methylglutacon aciduria type 7. In: Orphanet (database for rare diseases).
  14. ↑ 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.  In: Online Mendelian Inheritance in Man . (English)
  15. ↑ SB Wortmann, M. Duran, Y. Anikster, PG Barth, W. Sperl, J. Zschocke, E. Morava, RA Wevers: Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. In: Journal of inherited metabolic disease. Vol. 36, No. 6, November 2013, pp. 923-928, doi: 10.1007 / s10545-012-9580-0 , PMID 23296368 (review).

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