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[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
Zhonghua Er Ke Za Zhi. 2003 Dec; 41(12):916-20.ZE

Abstract

OBJECTIVE

Glutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism. The authors report two cases of late-onset glutaric aciduria type II, and evaluate the procedures for the diagnosis and treatment of this rare disease.

METHODS

The clinical and biochemical characteristics of 2 patients with late-onset glutaric aciduria type II were documented. Case 1 presented with lipid storage myopathy for 3 years. Case 2 presented with intermittent episodes of non-ketotic hypoglycemia and muscle weakness for 9 years. The diagnosis of the 2 cases was confirmed with gas chromatography/mass spectrometry analysis of urine samples. Riboflavin supplementation and a low-fat, low-protein, high-carbohydrate diet were initiated as soon as the diagnosis was made.

RESULTS

Organic acid analysis on both untreated cases revealed massive glutaric acid with elevated concentrations of isovalerylglycine, isobutyrylglycine, ethylmalonic acid, adipic acid, suberic acid and other dicarboxylic acids. The clinical manifestations were improved remarkably after the administration of riboflavin and diet control. Consistent improvements of sera enzymes and urine organic acids were observed during the course of treatment.

CONCLUSION

Patients with unexplained myopathy, metabolic acidosis or hypoglycemia should be carefully screened for inherited metabolic disorders. Riboflavin in conjunction with appropriate diet control is an effective therapeutic regime for patients with late-onset glutaric aciduria type II.

Authors+Show Affiliations

Department of Pediatrics, Tongji Hospital, Center for the Diagnosis of Genetic Metabolic Diseases, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

14723814

Citation

Liang, Yan, et al. "[Late-onset Riboflavin-responsive Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II)]." Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, vol. 41, no. 12, 2003, pp. 916-20.
Liang Y, Liu L, Wei H, et al. [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. Zhonghua Er Ke Za Zhi. 2003;41(12):916-20.
Liang, Y., Liu, L., Wei, H., Luo, X. P., & Wang, M. T. (2003). [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 41(12), 916-20.
Liang Y, et al. [Late-onset Riboflavin-responsive Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II)]. Zhonghua Er Ke Za Zhi. 2003;41(12):916-20. PubMed PMID: 14723814.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. AU - Liang,Yan, AU - Liu,Li, AU - Wei,Hong, AU - Luo,Xiao-ping, AU - Wang,Mu-ti, PY - 2004/1/16/pubmed PY - 2004/6/21/medline PY - 2004/1/16/entrez SP - 916 EP - 20 JF - Zhonghua er ke za zhi = Chinese journal of pediatrics JO - Zhonghua Er Ke Za Zhi VL - 41 IS - 12 N2 - OBJECTIVE: Glutaric aciduria type II, or multiple acyl-CoA dehydrogenase deficiency is an autosomal recessively inherited defect of mitochondrial energy metabolism. The authors report two cases of late-onset glutaric aciduria type II, and evaluate the procedures for the diagnosis and treatment of this rare disease. METHODS: The clinical and biochemical characteristics of 2 patients with late-onset glutaric aciduria type II were documented. Case 1 presented with lipid storage myopathy for 3 years. Case 2 presented with intermittent episodes of non-ketotic hypoglycemia and muscle weakness for 9 years. The diagnosis of the 2 cases was confirmed with gas chromatography/mass spectrometry analysis of urine samples. Riboflavin supplementation and a low-fat, low-protein, high-carbohydrate diet were initiated as soon as the diagnosis was made. RESULTS: Organic acid analysis on both untreated cases revealed massive glutaric acid with elevated concentrations of isovalerylglycine, isobutyrylglycine, ethylmalonic acid, adipic acid, suberic acid and other dicarboxylic acids. The clinical manifestations were improved remarkably after the administration of riboflavin and diet control. Consistent improvements of sera enzymes and urine organic acids were observed during the course of treatment. CONCLUSION: Patients with unexplained myopathy, metabolic acidosis or hypoglycemia should be carefully screened for inherited metabolic disorders. Riboflavin in conjunction with appropriate diet control is an effective therapeutic regime for patients with late-onset glutaric aciduria type II. SN - 0578-1310 UR - https://www.unboundmedicine.com/medline/citation/14723814/[Late_onset_riboflavin_responsive_multiple_acyl_CoA_dehydrogenase_deficiency__glutaric_aciduria_type_II_]_ L2 - http://journal.yiigle.com/LinkIn.do?linkin_type=pubmed&issn=0578-1310&year=2003&vol=41&issue=12&fpage=916 DB - PRIME DP - Unbound Medicine ER -