Related Experiment Video
Updated: Jul 9, 2026
08:04
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
[Treatable hereditary neuro-metabolic diseases]
F Sedel1, O Lyon-Caen, J-M Saudubray
1Fédération des maladies du système nerveux, Groupe Hospitalier Pitié-Salpêtrière, Paris. frederic.sedel@psl.aphp.fr
Revue Neurologique
|November 23, 2007
Summary
Early diagnosis of hereditary metabolic diseases presenting as neurological or psychiatric disorders in adults is crucial. Prompt treatment can prevent fatal outcomes and irreversible damage, especially in emergency settings.
Area of Science:
- Neurology
- Metabolic Disorders
- Genetics
Context:
- Hereditary metabolic diseases often manifest in adolescence or young adulthood.
- Neurological or psychiatric symptoms can be the primary presentation.
- Early identification is critical for effective treatment and prognosis.
Purpose:
- To review treatable hereditary metabolic disorders in adults.
- To correlate specific metabolic diseases with clinical presentations.
- To guide diagnostic and therapeutic strategies in emergency and chronic cases.
Summary:
- Acute neurological syndromes in adults can stem from urea cycle disorders, homocysteine metabolism disorders, and porphyria.
- Less common causes include Wilson's disease, aminoacidopathies, organic acidurias, and pyruvate dehydrogenase deficiency.
- Diagnostic screening involves tests like serum ammonia, homocysteine, lactate, and chromatography.
Impact:
- Timely intervention in metabolic emergencies can avert mortality and severe neurological sequelae.
- Management of chronic metabolic conditions can significantly improve patient quality of life.
- This review aids clinicians in recognizing and managing treatable metabolic disorders in adult patients.
Related Concept Videos
01:20Inborn 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...
01:22Lysosomal 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,...
01:15Parkinson's Disease: Overview
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
01:28Disorders of the Nervous Tissue
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
01:21Huntington Disease l: Introduction
Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
01:27Protein Import into the Peroxisomes
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...