Related Experiment Video

Updated: Apr 23, 2026

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
09:02

Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver

Published on: July 31, 2016

11.4K

Sapropterin is safe and effective in patients less than 4-years-old with BH4-responsive phenylalanine hydrolase

Haruo Shintaku1, Toshihiro Ohura2

  • 1Department of Pediatrics, Osaka City University School of Medicine, Osaka, Japan.

The Journal of Pediatrics
|September 17, 2014
PubMed

Insights

Early tetrahydrobiopterin (BH4) therapy with sapropterin is safe and effective for treating BH4-responsive phenylalanine hydroxylase (PAH) deficiency in young children. This treatment helps maintain optimal phenylalanine levels in Japanese pediatric patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Phenylalanine hydroxylase (PAH) deficiency, also known as phenylketonuria, is a genetic disorder.
  • Tetrahydrobiopterin (BH4) is a cofactor for PAH, and some patients respond to BH4 therapy.
  • Early intervention is crucial for managing metabolic disorders in children.

Purpose of the Study:

  • To evaluate the safety and efficacy of sapropterin in children under 4 years old with BH4-responsive PAH deficiency.
  • To compare treatment outcomes in younger children versus older children with this condition.

Main Methods:

  • A longitudinal follow-up study of Japanese patients with BH4-responsive PAH deficiency.
  • Analysis of data from 43 patients receiving sapropterin, with a focus on 21 patients who started treatment before age 4.
  • Assessment of serum phenylalanine levels and adverse drug reactions.

Main Results:

  • All 21 patients initiating sapropterin before age 4 maintained serum phenylalanine levels within the optimal range.
  • One non-serious adverse event (elevated alanine aminotransferase) was reported.
  • No significant nerve-related behavioral issues were observed.

Conclusions:

  • Sapropterin therapy initiated before age 4 is safe and effective for Japanese children with BH4-responsive PAH deficiency.
  • Early treatment helps achieve favorable serum phenylalanine control.
  • Sapropterin demonstrates a good safety profile in this pediatric population.
Abstract

More Related Videos

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine09:54

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

7.6K
A Silver Nanoparticle Method for Ameliorating Biliary Atresia Syndrome in Mice07:48

A Silver Nanoparticle Method for Ameliorating Biliary Atresia Syndrome in Mice

Published on: October 13, 2018

7.1K

Related Concept Videos

Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
394
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
941
Pharmacokinetics in Pediatric Patients: Drug Excretion01:26

Pharmacokinetics in Pediatric Patients: Drug Excretion

In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
398
Effect of Hepatic Disease on Pharmacokinetics: Dose Adjustments Due to Hepatic Impairment01:08

Effect of Hepatic Disease on Pharmacokinetics: Dose Adjustments Due to Hepatic Impairment

Hepatic impairment, characterized by decreased liver function, does not uniformly mandate adjustments in drug dosage. Whether dosage modifications are necessary depends on various factors related to the drug's metabolism and elimination pathways. If a drug is primarily excreted via the kidneys and bypasses significant hepatic processing, if it undergoes minimal metabolic transformation in the liver, or if it is volatile and primarily expelled through the lungs, dose adjustments may not be...
377
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
271
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...
1.1K