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Journals / 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
Pages
657–662
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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

📌 3 Key Takeaways

🎯
Objective & Hypothesis: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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Key Findings & Data:We present two patients with GA3 who were diagnosed with the isolated increased level of glutaric acid in urine.
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Conclusion & Impact:Our findings expand the spectrum of causative mutations and clinical findings in GA-3.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

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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Cite This Article

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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