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Dergiler / Turkish Journal of Pediatrics / 2020 / Cilt: 62 - Sayı: 4

Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings

Sevil DORUM
Özlem GÖRÜKMEZ
Orhan GÖRÜKMEZ
Sayfa
657–662
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Our findings expand the spectrum of causative mutations and clinical findings in GA-3.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion.
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Temel Bulgular & Veri:We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine.
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Sonuç & Katkı:Our findings expand the spectrum of causative mutations and clinical findings in GA-3.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Background. Glutaric Aciduria Type 3 (GA-3) is a rare metabolic disease which is inherited autosomal recessively and characterized by isolated glutaric acid excretion. To date, a limited number of cases have been reported in the literature. We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine. Case. Glutaric aciduria type 1 and type 2 were excluded by genetic analysis and other laboratory and clinical findings. One of our patients had a homozygous mutation p.Arg322Trp (c.964C> T) of SUGCT (NM_001193311) gene. To the best of our knowledge this mutation has not been reported in the literature previously. Symmetrical periventricular and deep cerebral white matter abnormalities were detected on his brain magnetic resonance imaging (MRI). Conclusion. We present two patients with GA-3 and a novel mutation in the SUGCT gene. Our findings expand the spectrum of causative mutations and clinical findings in GA-3.

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Bu Makaleye Atıf Yap

DORUM, S., GÖRÜKMEZ, Ö., GÖRÜKMEZ, O. (2020). Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings. Turkish Journal of Pediatrics, Cilt: 62 - Sayı: 4, 657–662. https://ajindex.com/articles/411837

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Kaynakça (13)

  1. Waters PJ, Kitzler TM, Feigenbaum A, et al. Glutaric aciduria type 3: three unrelated Canadian cases, with different routes of ascertainment. JIMD Rep 2018; 39: 89-96
  2. Bennett MJ, Pollitt RJ, Goodman SI, Hale DE, Vamecq J. Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder. J Inherit Metab Dis 1991; 14: 165-173
  3. Knerr I, Zschocke J, Trautmann U, et al. Glutaric aciduria type III: a distinctive non-disease? J Inherit Metab Dis 2002; 25: 483-490
  4. Marlaire S, Van Schaftingen E, Veiga-da-Cunha M. C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA. J Inherit Metab Dis 2014; 37: 13-19
  5. Sherman EA, Strauss KA, Tortorelli S, et al. Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in C7orf10. Am J Hum Genet 2008; 83: 604-609
  6. Skaricic A, Zekusic M, Fumic K, et al. New symptomatic patients with glutaric aciduria type 3: further evidence of high prevalence of the c.1006C>T (p.Arg336Trp) mutation. J Inherit Metab Dis 2016; 39(Suppl 1): S1-S34
  7. Robinson JT, Thorvaldsdóttir H, Winckler W, et-al. Integrative genomics viewer. Nat Biotechnol 2011; 29: 24-26
  8. Nunes J, Loureiro S, Carvalho S, et al. Brain MRI findings as an important diagnostic clue in glutaric aciduria type 1. Neuroradiol J 2013; 26: 155-161
  9. Brismar J, Ozand PT. CT and MR of the brain in glutaric acidemia type 1: a review of 59 published cases and report of 5 new patients. AJNR Am J Neuroradiol 1995; 16: 675-683
  10. Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neoroimaging findings in glutaric aciduria type 1. Pediatr Radiol 2003; 33: 823-830
  11. Loehr JP, Goodman SI, Frerman FE. Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr Res 1990; 27: 311- 315
  12. Ishii K, Komaki H, Ohkuma A, Nishino I, Nonaka I, Sasaki M. Central nervous system and muscle involvement in an adolescent patient with riboflavinresponsive multiple acyl-CoA dehydrogenase deficiency. Brain Dev 2010; 328: 669-672
  13. Mumtaz HA, Gupta V, Singh P, Marwaha RK, Khandelwal N. MR imaging findings of glutaric aciduria type II. Singapore Med J 2010; 51: e69-e71. 14. van der Knaap MS, Valk J. Leigh syndrome and mitochondrial leukoencephalopathies. In: Magnetic Resonance of Myelination and Myelin Disorders (3rd ed). Berlin Heidelberg: Springer, 2005: 224-244.