Abstract
ABSTRACT: A 9-y-old girl with ethylmalonic/adipic aciduria was hospitalized to determine the possible therapeutic efficacy of oral carnitine and glycine supplementation. To provoke a mild metabolic stress, her diet was supplemented with 440 mg/kg/d of medium-chain triglycerides. She was treated successively with carnitine (100 mg/kg/d) for 5 d, neither carnitine nor glycine for 2 d, and then glycine (250 mg/kg/d) for 6 d. Consecutive 12-h urine collections were obtained throughout the entire period. The urinary excretion of eight organic acids, four acylglycines, and four acylcarnitines, which accumulate as a result of a metabolic block of five mitochondrial acyl-CoA dehydrogenases, were quantitatively determined by capillary gas chromatography, stable isotope dilution gas chromatography/mass spectrometry, and radioisotopic exchange HPLC, respectively. The excretion of each group of metabolites was calculated as the mean percentage of total output (μmol/24 h) during the four phases of the protocol (organic acids/acylglycines/acylcarnitines = 100.0%): 1) regular diet (3 d); 88.1/10.8/1.1; 2) medium-chain triglyceride supplementation (4); 82.5/15.6/1.9; 3) medium-chain triglycerides plus carnitine (5); 79.2/8.2/12.6; and 4) medium-chain triglycerides plus glycine (6); 81.0/18.7/0.3. Comparison between total and individual excretion of acylglycines and acylcarnitines indicates that oral glycine supplementation enhanced the conjugation and excretion of fatty acyl-CoA intermediates as efficiently as carnitine. We propose that oral glycine supplementation should be considered in the treatment of other inborn errors of metabolism associated with abnormal urinary excretion of acylglycines.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Rinaldo, P., Welch, R., Previs, S. et al. Ethylmalonic/Adipic Aciduria: Effects of Oral Medium-Chain Triglycerides, Carnitine, and Glycine on Urinary Excretion of Organic Acids, Acylcarnitines, and Acylglycines. Pediatr Res 30, 216–221 (1991). https://doi.org/10.1203/00006450-199109000-00002
Received:
Accepted:
Issue date:
DOI: https://doi.org/10.1203/00006450-199109000-00002
This article is cited by
-
Integration of metabolomics, lipidomics and clinical data using a machine learning method
BMC Bioinformatics (2016)
-
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria
Journal of Inherited Metabolic Disease (2010)
-
Relative Carnitine Deficiency in Autism
Journal of Autism and Developmental Disorders (2004)
-
New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders
European Journal of Pediatrics (1994)
