Hereditary tyrosinemia Type I, presentation in a two month old

Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood

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Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disorders, Hepatic and renal insufficiency and corneal depositions. It can be managed by the timely use of medication and dietary plan and fatality can be avoided if the disease is picked up in its earlier stages. We report a case of a 2-month-old baby with signs, symptoms and lab diagnosis suggestive of hereditary tyrosinemia

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The case is discussed along with the drawbacks in our setup such as genetic testing and special tests required for a timely diagnosis for most metabolic disorders including neonatal liver disease such as hereditary tyrosinemia