Literature DB >> 27493308

Tyrosinemia Typel: A case report.

Mohmood M Rashad1, Carmen Nassar1.   

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.

Entities:  

Keywords:  Child; Inherited metabolic disorder; Saudi Arabia; Tyrosinemia type I

Year:  2011        PMID： 27493308      PMCID： PMC4949785     

Source DB:  PubMed          Journal:  Sudan J Paediatr        ISSN： 0256-4408


  7 in total

1.  Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.

Authors:  A Bergeron; M D'Astous; D E Timm; R M Tanguay
Journal:  J Biol Chem       Date:  2001-01-22       Impact factor: 5.157

2.  Nephropathy of tyrosinemia and its long-term outlook.

Authors:  K Paradis; I D D'Angata
Journal:  J Pediatr Gastroenterol Nutr       Date:  1997-01       Impact factor: 2.839

3.  The kidney in children with tyrosinemia: sonographic, CT and biochemical findings.

Authors:  S Forget; H B Patriquin; J Dubois; M Lafortune; A Merouani; K Paradis; P Russo
Journal:  Pediatr Radiol       Date:  1999-02

Review 4.  The pathophysiology and treatment of hereditary tyrosinemia type 1.

Authors:  M Grompe
Journal:  Semin Liver Dis       Date:  2001-11       Impact factor: 6.115

5.  Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment.

Authors:  F J van Spronsen; Y Thomasse; G P Smit; J V Leonard; P T Clayton; V Fidler; R Berger; H S Heymans
Journal:  Hepatology       Date:  1994-11       Impact factor: 17.425

6.  Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.

Authors:  J M Croffie; S K Gupta; S K Chong; J F Fitzgerald
Journal:  Pediatrics       Date:  1999-03       Impact factor: 7.124

Review 7.  Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).

Authors:  E Holme; S Lindstedt
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  7 in total
  2 in total

1.  Unusual first presentation of a metabolic disorder.

Authors:  Claire Emma Strauss; Gayle Hann
Journal:  BMJ Case Rep       Date:  2019-03-22

2.  Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.

Authors:  Sarar Mohamed; Mohammed A Kambal; Nasir A Al Jurayyan; Abdulrahman Al-Nemri; Amir Babiker; Rana Hasanato; Abdullah S Al-Jarallah
Journal:  BMC Res Notes       Date:  2013-09-09
  2 in total

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