Mohammed A Kambal

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Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms. We report two Saudi siblings with TT1. Case 1 was a male infant who presented at 2 months old with fever, vomiting and(More)
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