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Tyrosinemia Typel: A case report.

Mohmood M Rashad; Carmen Nassar.


Abstract
Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed based on clinical and biochemical findings.

Key words: Child; Inherited metabolic disorder; Saudi Arabia; Tyrosinemia type I


 
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Pubmed Style

Rashad MM, Nassar C. Tyrosinemia Typel: A case report.. Sudan J Paed. 2011; 11(1): 64-7.

Web Style

Rashad MM, Nassar C. Tyrosinemia Typel: A case report.. https://sudanjp.com//?mno=280787 [Access: June 23, 2024].

AMA (American Medical Association) Style

Rashad MM, Nassar C. Tyrosinemia Typel: A case report.. Sudan J Paed. 2011; 11(1): 64-7.


Vancouver/ICMJE Style

Rashad MM, Nassar C. Tyrosinemia Typel: A case report.. Sudan J Paed. (2011), [cited June 23, 2024]; 11(1): 64-7.


Harvard Style

Rashad, M. M. & Nassar, . C. (2011) Tyrosinemia Typel: A case report.. Sudan J Paed, 11 (1), 64-7.


Turabian Style

Rashad, Mohmood M, and Carmen Nassar. 2011. Tyrosinemia Typel: A case report.. Sudanese Journal of Paediatrics, 11 (1), 64-7.


Chicago Style

Rashad, Mohmood M, and Carmen Nassar. "Tyrosinemia Typel: A case report.." Sudanese Journal of Paediatrics 11 (2011), 64-7.


MLA (The Modern Language Association) Style

Rashad, Mohmood M, and Carmen Nassar. "Tyrosinemia Typel: A case report.." Sudanese Journal of Paediatrics 11.1 (2011), 64-7. Print.


APA (American Psychological Association) Style

Rashad, M. M. & Nassar, . C. (2011) Tyrosinemia Typel: A case report.. Sudanese Journal of Paediatrics, 11 (1), 64-7.




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