Related Experiment Video

Updated: Aug 15, 2026

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

Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism

S Stöckler1, F Hanefeld, J Frahm

  • 1Department of Paediatric Neurology, University Children's Hospital, Göttingen, Germany.

Lancet (London, England)
|September 21, 1996
PubMed

Insights

Oral creatine monohydrate effectively treated a creatine deficiency disorder in an infant. Supplementation normalized brain creatine levels and improved motor control and mentation, demonstrating its therapeutic potential.

Area of Science:

  • Biochemistry
  • Neuroscience
  • Pediatrics

Background:

  • The creatine/creatine-phosphate system is vital for energy metabolism in the brain and muscles.
  • Impaired creatine metabolism in infants can lead to developmental issues in motor control and cognition.

Observation:

  • A patient presented with extrapyramidal signs, indicating a potential metabolic disorder.
  • Analysis revealed depleted body and brain creatine due to inborn guanidinoacetate methyltransferase (GAMT) deficiency.

Findings:

  • Long-term oral creatine monohydrate supplementation (4-8 g/day) led to significant clinical improvement.
  • Magnetic resonance imaging (MRI) showed resolution of brain abnormalities, and electroencephalogram (EEG) normalized.
  • Brain and body creatine concentrations normalized over a 25-month treatment period.

Implications:

  • Oral creatine replacement is effective for treating guanidinoacetate methyltransferase (GAMT) deficiency.
  • This approach may benefit other inborn errors of creatine synthesis, offering a potential therapeutic strategy.
Abstract

More Related Videos

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function11:47

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on: January 22, 2017

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

Related Concept Videos

Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
Anticholinesterase Agents: Poisoning and Treatment01:26

Anticholinesterase Agents: Poisoning and Treatment

Anticholinesterases, also known as cholinesterase inhibitors, work by blocking the breakdown of acetylcholine, leading to its accumulation in the synaptic cleft. This accumulation indirectly enhances both muscarinic and nicotinic actions. These agents are classified as reversible or irreversible based on their mechanism of action.     
Irreversible agents form a strong bond with the cholinesterase enzyme, making it inactive. The breakdown of the phosphorylated enzyme is slower than the...
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...
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...
Continuous Renal Replacement Therapy01:30

Continuous Renal Replacement Therapy

Continuous Renal Replacement Therapy, also known as CRRT, is a procedural treatment for acute kidney injury (AKI) that gradually removes uremic toxins and fluids while maintaining acid-base balance and stabilizing electrolytes. It is particularly useful for hemodynamically unstable patients. Unlike intermittent hemodialysis, which is faster, CRRT provides a gentler approach over 24 hours, closely mimicking the function of natural kidneys. However, CRRT is not ideal for patients with...