Related Experiment Video

Updated: Mar 22, 2026

Methods to Inhibit Bacterial Pyomelanin Production and Determine the Corresponding Increase in Sensitivity to Oxidative Stress
11:00

Methods to Inhibit Bacterial Pyomelanin Production and Determine the Corresponding Increase in Sensitivity to Oxidative Stress

Published on: August 31, 2015

8.8K

Tyrosinemia type I: Case series with response to treatment to NTBC

Ira Shah1, Forum Shah2

  • 1Pediatric Liver Clinic, Bai Jerbai Wadia Hospital for Children, Acharya Donde Marg, Lower Parel, Mumbai, 400 012, India. irashah@pediatriconcall.com.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology
|April 26, 2016
PubMed

Insights

This study shows that NTBC treatment for tyrosinemia can normalize liver function and prevent complications in most children. One child required a liver transplant but is recovering well.

Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Genetics

Background:

  • Tyrosinemia is a rare genetic disorder affecting liver function.
  • Early diagnosis and treatment are crucial for managing tyrosinemia.
  • NTBC is a medication used to treat tyrosinemia.

Observation:

  • Four children with tyrosinemia were treated with NTBC.
  • One child developed hepatocellular carcinoma after 3 months of NTBC and underwent liver transplantation.
  • The remaining three children were treated with NTBC for nearly 3 years.

Findings:

  • Children on long-term NTBC therapy maintained normal liver function.
  • Urine succinylacetone levels were undetectable in treated children.
  • No cases of portal hypertension or renal tubular acidosis were observed in the long-term NTBC group.

Implications:

  • NTBC therapy appears effective in managing tyrosinemia and preventing severe complications.
  • Long-term NTBC treatment is associated with favorable clinical outcomes.
  • Liver transplantation remains an option for advanced cases, with good post-transplant prognosis.

Keywords:
ChildrenNTBCTyrosinemia

More Related Videos

Assessment of Resistance to Tyrosine Kinase Inhibitors by an Interrogation of Signal Transduction Pathways by Antibody Arrays07:42

Assessment of Resistance to Tyrosine Kinase Inhibitors by an Interrogation of Signal Transduction Pathways by Antibody Arrays

Published on: September 19, 2018

8.4K
Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia10:49

Pre-clinical Evaluation of Tyrosine Kinase Inhibitors for Treatment of Acute Leukemia

Published on: September 18, 2013

18.7K

Related Concept Videos

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
58
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
65
Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers01:26

Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers

Receptor tyrosine kinase inhibitors (TKIs) and calcium channel blockers (CCBs) are two critical categories of drugs employed in the treatment of pulmonary artery hypertension (PAH). PAH is a disease that causes high blood pressure in the pulmonary arteries, resulting in chest pain, fatigue, and shortness of breath.
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...
631
Nephrotic Syndrome II : Assessment and Medical Management01:26

Nephrotic Syndrome II : Assessment and Medical Management

IntroductionNephrotic syndrome is a kidney disorder marked by excessive protein loss in the urine, leading to various systemic complications. This condition often results from damage to the glomeruli—the kidney's filtering units—causing proteinuria, low blood protein levels, and fluid retention. Understanding the assessment, diagnosis, and management of nephrotic syndrome is essential for effective treatment and prevention of further kidney damage.AssessmentPatient History: Document...
306
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
996