Related Experiment Video
Updated: Jun 24, 2026
09:28
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Carnitine supplementation for inborn errors of metabolism
Mona Nasser1, Hoda Javaheri, Zbys Fedorowicz
1Department of Health Information, Institute for Quality and Efficiency in Health care, Dillenburger Street, 27, D-51105, Köln, Germany, D-51105. mona.nasser@iqwig.de
The Cochrane Database of Systematic Reviews
|April 17, 2009
Summary
Carnitine supplementation lacks evidence for treating inborn errors of metabolism due to no available trials. Clinical decisions should rely on experience until high-quality studies emerge.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Inborn errors of metabolism (IEMs) are genetic disorders affecting nutrient synthesis and metabolism.
- Carnitine supplementation is proposed as an interim measure for suspected IEMs, especially in infants awaiting test results.
- Carnitine is used for primary carnitine deficiency and secondary deficiencies in IEMs like organic acidaemias and fatty acid oxidation defects.
Purpose of the Study:
- To evaluate the effectiveness and safety of carnitine supplementation in managing inborn errors of metabolism.
Main Methods:
- Searched multiple databases (Cochrane, MEDLINE, LILACS, Iranmedex) and trial registers for relevant studies.
- Included randomized controlled trials (RCTs) and quasi-RCTs comparing carnitine supplementation with placebo in IEM patients.
- Two authors independently screened and assessed trial eligibility.
Main Results:
- No eligible randomized controlled trials or quasi-randomized controlled trials were identified for inclusion in the review.
- The review found no published or ongoing RCTs addressing the research question.
Conclusions:
- There is a significant lack of high-level evidence regarding the effectiveness and safety of carnitine supplementation for IEMs.
- Clinical decisions should be guided by existing experience and patient preferences in the absence of robust data.
- Methodologically sound, placebo-controlled trials adhering to CONSORT guidelines are needed, with ethical considerations for potentially lethal diseases.
More Related Videos
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...
01:27Protein 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...
01:24Pharmacokinetics 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...
01:23Urea 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.
01:18Amino Acid Catabolism
Microorganisms rely on proteins as an essential carbon and energy source, particularly in environments with limited polysaccharides or lipids. However, proteins are too large to cross the plasma membrane unaided, necessitating enzymatic degradation. Microbes secrete extracellular proteases and peptidases that hydrolyze proteins into peptides, which can then be transported across the membrane. Once inside the cell, intracellular proteases degrade these peptides into free amino acids, which...
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,...