Comment on Pancreatitis in type 1 Tyrosinemia

Comment on Pancreatitis in Type 1 Tyrosinemia

Address for Correspondence: Dr. Hakim Rahmoune, Department of Pediatrics, Setif University Hospital, Setif, Algeria Phone: +213-550123279 e-mail: [email protected] Received: 7 August 2016 Accepted: 16 January 2017 • DOI: 10.4274/balkanmedj.2016.1209 Available at www.balkanmedicaljournal.org Cite this article as: Rahmoune H, Boutrid N, Amrane M, Bioud B. Comment on Pancreatitis in Type 1 T...

Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report

Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...

Goldenhar syndrome and hereditary tyrosinemia type 1.

We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cy...

Comment on “ Type 1 Diabetes in

Type 1 autoimmune pancreatitis

Before the concept of autoimmune pancreatitis (AIP) was established, this form of pancreatitis had been recognized as lymphoplasmacytic sclerosing pancreatitis or non-alcoholic duct destructive chronic pancreatitis based on unique histological features. With the discovery in 2001 that serum IgG4 concentrations are specifically elevated in AIP patients, this emerging entity has been more widely ...