Related Experiment Video

Updated: Jul 24, 2025

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells
06:21

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells

Published on: November 4, 2022

5.1K

Childhood Neurological Disorders With Hyperhomocystinemia: A Case-Based Review

Sangeetha Yoganathan1, Himani Bhasin2, Divyani Garg3

  • 1Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.

Pediatric Neurology
|July 6, 2023
PubMed

Insights

Hyperhomocysteinemia, a rare neurometabolic disorder, presents diverse symptoms in children, challenging diagnosis. Early biochemical and genetic testing are crucial for identifying and treating this reversible condition.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Pediatrics

Background:

  • Hyperhomocysteinemia is a rare neurometabolic syndrome.
  • It presents with diverse manifestations in children, making diagnosis challenging.
  • Prompt biochemical testing is essential for guiding further evaluation in inherited disorders.

Purpose of the Study:

  • To demonstrate the heterogeneity of clinical presentations in pediatric hyperhomocysteinemia.
  • To highlight the importance of biochemical and genetic evaluation.
  • To showcase treatment strategies that can reverse the condition in children.

Main Methods:

  • Case-based approach.
  • Review of clinical presentations.
  • Analysis of biochemical and genetic testing results.
  • Evaluation of treatment outcomes.

Main Results:

  • Significant heterogeneity in clinical manifestations was observed.
  • Biochemical and genetic evaluations were critical for diagnosis.
  • Various treatment strategies were employed.
  • Reversal of the condition was achieved in treated children.

Conclusions:

  • Hyperhomocysteinemia in children requires a comprehensive diagnostic approach.
  • Integrated biochemical and genetic assessments are vital.
  • Timely and appropriate treatment can lead to favorable outcomes.

Keywords:
Developmental delayEpilepsyHomocysteineVitamin B(12)

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K
High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.4K

Related Concept Videos

Disorders of the Nervous Tissue01:28

Disorders 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...
1.4K
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...
204
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
Disorders of Erythrocytes01:27

Disorders of Erythrocytes

Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
997
Attention-Deficit/Hyperactivity Disorder01:30

Attention-Deficit/Hyperactivity Disorder

Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
133
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K