Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

Two Cases of Acute Form of Tyrosinemia Type I

Kyu Tae Kim, Young Mi Kim, Su Eun Park, Sang Ook Nam, Jae Hong Park

Clin Exp Pediatr. 2002;45(1):131-136. Published online January 15, 2002

Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine. The disease is characterized by hepatic dysfunction, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. We experienced 2 cases(a 4-day-old girl, a 7- month-old girl) of acute form of tyrosinemia type I. Case...

MOST CITED AHEAD-OF PRINT

Cited By 25	Neurodevelopmental outcomes of preterm infants
Cited By 20	Association of gut microbiota with obesity in children and adolescents
Cited By 20	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 19	Prevalence of anxiety, depression, and stress among parents of neonates admitted to neonatal intensive care unit: a systematic review and meta-analysis
Cited By 18	Nonalcoholic fatty liver disease and insulin resistance in children

+more

Clinical course of children with postinfectious bronchiolitis obliterans with versus without comorbid bronchopulmonary dysplasia

Treatment targeting pediatric inflammatory bowel disease-associated anemia: experience from a single tertiary center

Role of neutrophil elastase in predicting infection among children with chemotherapy-induced febrile neutropenia

Effect of postoperative enteral protein supplementation on nitrogen balance in critically ill children

Adenosine deaminase and interleukin-1 receptor antagonist genetic polymorphisms among obese children with versus without metabolic dysfunction–associated fatty liver disease

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)