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Mifrah Rahat Khan on Muck Rack

Mifrah Rahat Khan

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Articles

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report

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By Muhammad Siddique, Muhammad Shahzad, Mifrah Rahat Khan
| Wiley Online Library Verified
1 Introduction Hereditary tyrosinemia Type 1 (HT-1) is a rare autosomal recessive disorder that happens when there is not enough fumarylacetoacetate hydrolase (FAH), which is the last enzyme needed to break down tyrosine. About 1 in 100,000 to 120,000 live births worldwide have it, but higher rates have been found in founder populations like Quebec, Canada (1 in 1846) [1, 2].
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