Related Experiment Video

Updated: Jul 2, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
09:28

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

Published on: June 25, 2010

13.2K

A treatable inborn error of metabolism presenting in the sixth decade

Sarah-Jane Martin1,2, Amy Davidson1,2, Sheena Murdoch3

  • 1NHS Greater Glasgow and Clyde, Institute of Neurological Sciences, Glasgow, UK.

BMJ Case Reports
|February 21, 2024
PubMed

Insights

Phenylketonuria (PKU), a metabolic disorder, can manifest in adulthood with cognitive decline and spasticity. This case highlights the importance of considering PKU in older patients, even with neonatal screening programs.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism.
  • Untreated PKU leads to severe developmental and neurological issues.
  • PKU is part of the UK's neonatal screening program.

Observation:

  • A patient in his sixth decade presented with progressive cognitive decline and spasticity.
  • Diagnosis of PKU was established late in the patient's life.
  • This case occurred in an individual born before 1969, predating comprehensive PKU screening.

Findings:

  • Late-onset PKU can present with neurological symptoms mimicking other white matter diseases.
  • Historical screening methods were less sensitive than current neonatal tests.
  • Inherited metabolic disorders may present symptomatically in adulthood.

Implications:

  • This case underscores the need for considering PKU in adult patients with unexplained neurocognitive decline.
  • It highlights the limitations of early screening programs and the potential for missed diagnoses.
  • Adult-onset presentation of PKU necessitates awareness among clinicians for timely diagnosis and management.

Keywords:
Neuro geneticsNeuroimaging

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

8.2K
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.1K

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...
158
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...
1.2K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Urea Cycle01:23

Urea Cycle

The urea cycle describes how liver cells convert ammonia to urea. Ammonia is a toxic waste product of protein catabolism. Land animals must convert ammonia into the less toxic urea which can be safely eliminated by the kidneys through urine. Marine animals excrete ammonia directly, and the surrounding water dilutes the ammonia to safe levels.
44.5K
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.8K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.7K