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Journals / Türk Nöroloji Dergisi / 2020 / Cilt: 26 - Sayı: 3

A Rare Cause of Spasticity and Microcephaly: Argininemia

Spastisite ve Mikrosefalinin Nadir Bir Nedeni: Arjininemi

Hüseyin Per
Ayşe Kaçar Bayram
Mehmet Canpolat2
Sefer Kumandas
Pembe Soylu Ustkoyuncu
Songul Gokay
Fatih Kardas
Hakan Gumus
Hatice Gamze Poyrazoglu
Mustafa Kendirci
Pages
250–252
Publication Date
2022-11-06
DOI
—
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AI Summary & Key Takeaways

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

Microcephaly may be the initial clinical finding of the disorder

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase.
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Key Findings & Data:Moleculargenetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p.
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Conclusion & Impact:Microcephaly may be the initial clinical finding of the disorder
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficultyof walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevated hepatic enzymes and elevated plasma arginine concentration. Moleculargenetic analysis was performed for suspected argininemia and a novel homozygous mutation c. 231C> A (p. S77R) was detected in the ARG1 gene. The secondpatient was admitted because of poor head control when he was aged 6 months. Microcephaly was detected in his physical examination, and basic metabolic testswere studied. Elevated levels of plasma arginine and orotic acid in urine organic acid analysis were compatible with argininemia. A homozygous mutation c.703G>C (p. G235R) was detected in the ARG1 gene and the diagnosis was confirmed. Arginineemia is a rare cause of progressive spastic diplegia. Patients may bemistakenly diagnosed as having cerebral palsy. Microcephaly may be the initial clinical finding of the disorder

Özet

Arjininemi, arjinaz eksikliğinden kaynaklanan otozomal resesif, bir üre siklus bozukluğudur. İlk olgumuz psikomotor gerilik, yürümede zorluk ve progresif parmak uçlarında yürüme şikayetleri ile başvurdu. Laboratuvar incelemeleri ılımlı karaciğer enzim yüksekliği ve yükselmiş plazma arjinin konsantrasyonunu gösteriyordu. Arjininemi şüphesi ile moleküler genetik analiz yapıldı ve ARG1 geninde yeni bir homozigot mutasyon c. 231C> A (p. S77R) tespit edildi. İkinci olgu, altı aylık iken başını dik tutamama nedeniyle başvurdu. Fizik muayenesinde mikrosefali saptandı ve temel metabolik testler çalışıldı. Yükselmiş plazma arjinin ve idrar organik asit analizinde orotik asit seviyelerinin artışı, arjininemi ile uyumlu idi. ARG1 geninde homozigot mutasyon c.703G> C (p. G235R) tespit edildi ve tanı doğrulandı. Arjininemi progresif spastik diplejinin nadir bir nedenidir. Hastalar yanlışlıkla serebral palsi tanısı alabilirler. Mikrosefali hastalığın başlangıç klinik bulgusu olabilir.

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Cite This Article

Per, H., Bayram, A. K., Canpolat2, M., Kumandas, S., Ustkoyuncu, P. S., Gokay, S., Kardas, F., Gumus, H., Poyrazoglu, H. G., Kendirci, M. (2022). A Rare Cause of Spasticity and Microcephaly: Argininemia. Türk Nöroloji Dergisi, Cilt: 26 - Sayı: 3, 250–252. https://ajindex.com/articles/636663

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References (12)

  1. Grioni D, Furlan F, Canonico F, Parini R. Epilepsia partialis continua and generalized non convulsive status epilepticus during the course of argininemia: a report on two cases. Neuropediatrics 2014;45:123-128
  2. Jichlinski A, Clarke L, Whitehead MT, Gropman A. “Cerebral Palsy” in a patient with arginase deficiency. Semin Pediatr Neurol 2018;26:110-114
  3. Bakhiet M, AlAwadi AMI, AlHammadi MM, Ali MF, Butti N. A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain. Medicine 2018;97:e10780
  4. Yucel H, Kasapkara ÇS, Akcaboy M, et al. Recurrent hepatic failure and status epilepticus: an uncommon presentation of hyperargininemia. Metab Brain Dis 2018;33:1775-1778
  5. Carvalho DR, Brum JM, Speck-Martins CE, et al. Clinical features and neurologic progression of hyperargininemia. Pediatr Neurol 2012;46:369- 374
  6. Asrani KH, Cheng L, Cheng CJ, Subramanian RR. Arginase I mRNA therapy- a novel approach to rescue arginase 1 enzyme deficiency. RNA Biol 2018;15:914-922
  7. Crombez EA, Cederbaum SD. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab 2005;84:243-251
  8. Jain-Ghai S, Nagamani SC, Blaser S, Siriwardena K, Feigenbaum A. Arginase I deficiency: severe infantile presentation with hyperammonemia: more common than reported? Mol Genet Metab 2011;104:107-111
  9. Deignan JL, De Deyn PP, Cederbaum SD, et al. Guanidino compound levels in blood, cerebrospinal fluid and postmortem brain material of patients with arginininemia. Mol Genet Metab 2010;100:31-36
  10. Edwards RL, Moseley K, Watanabe Y, et al. Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening. J Inherit Metab Dis 2009;32:197-200
  11. Zhang T, Yang J, Yin X, et al. Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening. Clin Chim Acta 2017;466:68-71
  12. Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J. Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations. Hum Mutat 2018;39:1029-1050.