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Tyrosinemia Typel: A case report

Mohmood M Rashad1, Carmen Nassar1

  • 1Department of Pediatrics , King Fahd Hospital, Al Baha , Saudi Arabia.

Sudanese Journal of Paediatrics
|August 6, 2016
PubMed

Insights

Tyrosinemia type 1 is a rare inherited metabolic disorder caused by a specific enzyme deficiency. This case report details a Saudi infant diagnosed with tyrosinemia type 1, presenting with severe symptoms including jaundice and liver enlargement.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Tyrosinemia type 1 is an inherited metabolic disorder resulting from a deficiency of the fumarylacetoacetate hydrolase enzyme.
  • This condition affects multiple organs, primarily the liver and kidneys, leading to severe health complications if untreated.

Observation:

  • An eight-month-old Saudi male infant presented with jaundice, fever, and altered consciousness.
  • Clinical examination revealed abdominal distension, hepatomegaly, ascites, and signs suggestive of rickets.

Findings:

  • The infant's clinical presentation and biochemical results confirmed the diagnosis of tyrosinemia type 1.
  • The specific enzyme deficiency was identified as the underlying cause.

Implications:

  • Early diagnosis and intervention are crucial for managing tyrosinemia type 1.
  • This case highlights the importance of recognizing diverse clinical manifestations in infants with metabolic disorders.

Keywords:
ChildInherited metabolic disorderSaudi ArabiaTyrosinemia type I

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