Related Experiment Video

Updated: Jun 20, 2026

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency

A Chaabene-Masmoudi1, F Mesrati, J Zittoun

  • 1Department of Pediatric Neurology, CHU Paris-Sud, 94270, Le Kremlin-Bicêtre, France.

Journal of Inherited Metabolic Disease
|August 22, 2009
PubMed

Insights

5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency can lead to neurological issues even with treatment. Long-term monitoring for peripheral neuropathy is crucial in affected individuals.

Area of Science:

  • Biochemistry
  • Neurology
  • Genetics

Background:

  • 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare genetic disorder affecting folate metabolism.
  • Early diagnosis and treatment are crucial for managing neurological symptoms in infants.

Observation:

  • A patient diagnosed with MTHFR deficiency in infancy showed satisfactory neuromotor development with standard treatment.
  • Despite treatment compliance and stable biochemical markers, the patient developed peripheral axonal neuropathy at age 15.

Findings:

  • The development of peripheral neuropathy in MTHFR deficiency can occur later in life, irrespective of initial treatment success.
  • Reinforcing betaine doses provided only partial clinical improvement for the neuropathy.

Implications:

  • Long-term neurological surveillance, specifically for peripheral nerve health, is recommended for individuals with MTHFR deficiency.
  • This case highlights the potential for late-onset neurological complications in MTHFR deficiency, necessitating ongoing monitoring.

More Related Videos

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes03:19

Modifying Levels of Maternal Dietary Folic Acid or Choline to Study the Impact of Deficiencies on Offspring Health Outcomes

Published on: June 28, 2024

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...
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...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Diabetic Neuropathy01:22

Diabetic Neuropathy

DefinitionDiabetic neuropathy is nerve damage caused by long-standing diabetes mellitus. It results directly from prolonged high blood sugar levels.PathophysiologyThe pathophysiology of diabetic neuropathy involves both metabolic and vascular disturbances triggered by chronic hyperglycemia.Metabolic injury: Elevated glucose levels activate the polyol pathway within nerve cells, leading to the accumulation of sorbitol and fructose. This increases oxidative stress, disrupts normal nerve...
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...
Vitamins01:30

Vitamins

Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...