Article

Unveiling the Unexpected: Refractory Rickets as an Uncommon presentation of Tyrosinemia Type I

2025-08-22

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumarylacetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine, resulting in accumulation of certain metabolic intermediates in tyrosine catabolic pathway primarily causing liver disease, but also affecting k...

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Literature Corpus work: 07b1852d-a538-50ec-8465-6beeacb1f923
DOI: 10.21203/rs.3.rs-7155199/v1

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