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Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.
Pediatr Res. 1980 Jan; 14(1):12-7.PR

Abstract

When amino acids were infused at a rate of 4 g/kg/day, an infant with hypoglycemia, metabolic acidemia and chronic regurgitation showed hypersarcosinemia and excreted abnormal amounts of sarcosine, isovalerylglycine, isobutyrylglycine, alpha-methylbutyrylglycine, and beta-hydroxyisovaleric, glutaric, alpha-hydroxyglutaric, methylsuccinic, and alpha-hydroxyisobutyric acids in urine. On all other occasions, when protein intake was lower and lipid intake higher, urine organic acids were dominated by methylsuccinic, ethylmalonic, and alpha-hydroxyglutaric acids, and hypersarcosinemia was absent. Autopsy showed severe fatty changes in liver, kidneys, and skeletal muscle. A previous female sibling had died with similar autopsy findings at 4 days of age. While activity of glutaryl-CoA dehydrogenase was completely deficient in liver and almost completely so in kidney, it was normal in cultured fibroblasts in the presence of flavin adenine dinucleotide (FAD) and only marginally low in its absence. Incorporation of D-(2-14C) riboflavin into flavin mononucleotides (FMN) and FAD by kidney tissue was normal. The authors conclude that this disorder is not due to generalized deficiency of glutaryl-CoA dehydrogenase or to a defect in FAD synthesis. The amino and organic acid abnormalities noted are most consistent with a defect in the flavoprotein which transfers electrons from the FAD of sarcosine and acyl-CoA dehydrogenases into the respiratory chain, although a defect in intercompartmental transfer of C4--5 acyl CoA esters across cell membranes is not excluded. The variability of the organic aciduria, which possibly reflects changes in protein and fat intake, suggests that a previous name for this disorder, i.e., glutaric aciduria type II, is inappropriate and should be replaced, perhaps by "multiple acyl-CoA dehydrogenase deficiency."

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7360517

Citation

Goodman, S I., et al. "Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II) With Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein." Pediatric Research, vol. 14, no. 1, 1980, pp. 12-7.
Goodman SI, McCabe ER, Fennessey PV, et al. Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatr Res. 1980;14(1):12-7.
Goodman, S. I., McCabe, E. R., Fennessey, P. V., & Mace, J. W. (1980). Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. Pediatric Research, 14(1), 12-7.
Goodman SI, et al. Multiple acyl-CoA Dehydrogenase Deficiency (glutaric Aciduria Type II) With Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein. Pediatr Res. 1980;14(1):12-7. PubMed PMID: 7360517.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein. AU - Goodman,S I, AU - McCabe,E R, AU - Fennessey,P V, AU - Mace,J W, PY - 1980/1/1/pubmed PY - 1980/1/1/medline PY - 1980/1/1/entrez SP - 12 EP - 7 JF - Pediatric research JO - Pediatr. Res. VL - 14 IS - 1 N2 - When amino acids were infused at a rate of 4 g/kg/day, an infant with hypoglycemia, metabolic acidemia and chronic regurgitation showed hypersarcosinemia and excreted abnormal amounts of sarcosine, isovalerylglycine, isobutyrylglycine, alpha-methylbutyrylglycine, and beta-hydroxyisovaleric, glutaric, alpha-hydroxyglutaric, methylsuccinic, and alpha-hydroxyisobutyric acids in urine. On all other occasions, when protein intake was lower and lipid intake higher, urine organic acids were dominated by methylsuccinic, ethylmalonic, and alpha-hydroxyglutaric acids, and hypersarcosinemia was absent. Autopsy showed severe fatty changes in liver, kidneys, and skeletal muscle. A previous female sibling had died with similar autopsy findings at 4 days of age. While activity of glutaryl-CoA dehydrogenase was completely deficient in liver and almost completely so in kidney, it was normal in cultured fibroblasts in the presence of flavin adenine dinucleotide (FAD) and only marginally low in its absence. Incorporation of D-(2-14C) riboflavin into flavin mononucleotides (FMN) and FAD by kidney tissue was normal. The authors conclude that this disorder is not due to generalized deficiency of glutaryl-CoA dehydrogenase or to a defect in FAD synthesis. The amino and organic acid abnormalities noted are most consistent with a defect in the flavoprotein which transfers electrons from the FAD of sarcosine and acyl-CoA dehydrogenases into the respiratory chain, although a defect in intercompartmental transfer of C4--5 acyl CoA esters across cell membranes is not excluded. The variability of the organic aciduria, which possibly reflects changes in protein and fat intake, suggests that a previous name for this disorder, i.e., glutaric aciduria type II, is inappropriate and should be replaced, perhaps by "multiple acyl-CoA dehydrogenase deficiency." SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/7360517/Multiple_acyl_CoA_dehydrogenase_deficiency__glutaric_aciduria_type_II__with_transient_hypersarcosinemia_and_sarcosinuria L2 - http://dx.doi.org/10.1203/00006450-198001000-00004 DB - PRIME DP - Unbound Medicine ER -