Isolated sulfite oxidase deficiency

Objective & Hypothesis:Isolated sulfite oxidase deficiency is a Very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids.

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Key Findings & Data:Isolated sulfite oxidase deficiency is a Very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids.

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Conclusion & Impact:A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Abstract

Isolated sulfite oxidase deficiency is a Very rare autosomal recessive disorder associated with metabolism of sulfur containing amino acids. A 4-month-old girl with intractable seizures and feeding difficulty diagnosed as isolated sulfite oxidase deficiency is presented.

Özet

İzole sülfit oksidaz eksikliği nadir görülen, otozomal çekinik (resesif) geçişli, sülfür içeren amino asit metabolizması bozukluğudur! Dirençli nöbetler ve beslenme güçlüğü yakınması ile başvuran ve izole sülfit oksidaz eksikliği tanısı alan bir olgu sunulmuştur.

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Cite This Article

EZGÜ, F. S., ŞENBİL, N., TOSUN, M. S., GÜRER, Y. K. Y. (2022). Isolated sulfite oxidase deficiency. Türk Pediatri Arşivi, Cilt: 40 - Sayı: 2, 105–108. https://ajindex.com/articles/641697

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