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Related Concept Videos

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...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
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 a challenge in...
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
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...

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Articles linked to this work by shared authors, journal, and citation graph.

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How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

Nutrients·2026
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Next-generation newborn screening: feasibility of combined genetic and biochemical testing for 95 treatable inherited metabolic disorders.

Metabolomics : Official journal of the Metabolomic Society·2026
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Living with phenylketonuria in adulthood.

Nutrition (Burbank, Los Angeles County, Calif.)·2026
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Vitamin B<sub>12</sub> Supplementation: Is More Always Better?

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The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria.

Orphanet journal of rare diseases·2025
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Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82.

International journal of neonatal screening·2025

Related Experiment Video

Updated: Jun 10, 2026

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

Phenylketonuria: a 21st century perspective.

Francjan J van Spronsen1

  • 1Beatrix Children's Hospital, University Medical Center of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands. f.j.van.spronsen@bkk.umcg.nl

Nature Reviews. Endocrinology
|August 20, 2010
PubMed
Summary

Phenylketonuria (PKU) is an inherited metabolic disorder. While dietary management improves outcomes, new therapies like gene therapy are being explored to enhance patient quality of life.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Phenylketonuria (PKU) is the most common inherited amino acid metabolism disorder.
  • Caused by mutations in the phenylalanine hydroxylase gene, leading to phenylalanine accumulation.
  • Untreated PKU results in severe neurological impairment.

Observation:

  • Neonatal screening and dietary treatment have shifted PKU to a biochemical diagnosis.
  • Current treatment involves strict dietary protein restriction and specialized supplements.
  • Despite good clinical outcomes, neuropsychological deficits persist in treated individuals.

Findings:

  • Neuropsychological deficits, suboptimal nutrition, and psychosocial issues remain challenges for PKU patients on dietary treatment.

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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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  • Emerging therapies include tetrahydrobiopterin, large neutral amino acids, phenylalanine ammonia lyase, gene therapy, and chaperone treatment.
  • These novel approaches aim to improve overall patient well-being and address unmet needs.

    • Implications:

    • New therapeutic strategies are crucial for improving the quality of life and long-term outcomes for phenylketonuria patients.
    • Advancements in treatment hold promise for mitigating the long-term effects of PKU.
    • Continued research into gene therapy and other novel treatments is essential for the future management of PKU.