Unveiling the unexpected: refractory rickets as an uncommon presentation of tyrosinemia type I

Abstract Background Tyrosinemia type I is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH), an enzyme essential for the final breakdown of tyrosine. The enzyme defect leads to accumulation of toxic metabolites, primarily affecting the...

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Үндсэн зохиолчид:	Meenakshi B. Ramanna, Mahesh Kamate, Bhavana Koppad
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2026-03-01
Цуврал:	BMC Pediatrics
Нөхцлүүд:	Tyrosinemia Hypophosphatemic rickets Fanconi syndrome Nitisinone Refractory rickets
Онлайн хандалт:	https://doi.org/10.1186/s12887-026-06690-0
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!