Reye's syndrome and hyperaminoacidemia

Hilty, Milo D.; Romshe, Garolyn A.; DeLamater, Paul V.

doi:10.1016/s0022-3476(74)80717-1

Cited by 64 publications

(14 citation statements)

References 16 publications

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“…As reported earlier with Reye's syndrome [ 5 ] , hyperaminoacidemia was present in 2 of the present group of patients. Elevated concentrations of glutamine and alanine appear to be a direct consequence of hyperammonemia, reflecting attempts by the body to clear ammonia via the conversion of glutamic acid to glutarnine and of pyruvic acid to alanine.…”

Section: Discussionsupporting

confidence: 86%

“…These include hyperammonemia 171, hyperaminoacidemia [ 5 ] , elevated lipids [ 3 ] , and abnormal muscle enzymes [8], all of which have been mentioned as possible contributors to the disease process or to prognosis. We have recently reported consistent elevations in serum concentrations of the short-chain fatty acids (SCFA) propionate, butyrate, and isobutyrate in patients with Reye's syndrome early in the course of the disease [12].…”

mentioning

confidence: 99%

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Biochemical correlates of illness and recovery in Reye's syndrome

Trauner

Sweetman

Holm

et al. 1977

Annals of Neurology

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Section: Discussionsupporting

confidence: 86%

mentioning

confidence: 99%

Biochemical correlates of illness and recovery in Reye's syndrome

Trauner

Sweetman

Holm

et al. 1977

Annals of Neurology

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“…Such defects could explain the hyperammonemia, encephalopathy, and amino acid patterns which have been reported (16). A defect in one or both of the mitochondrial enzymes of this pathway is even more attractive in view of the ultrastructural changes in the hepatocyte mitochondria described by Partin et a/.…”

Section: Animal Studiesmentioning

confidence: 96%

Abnormalities of Carbamyl Phosphate Synthetase and Ornithine Transcarbamylase in Liver of Patients with Reye's Syndrome

et al. 1975

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“…However, the abnormalities noted in that child are not specific, having been observed in Reye's syndrome (16,19,27), and their relation to the child's then moribund state cannot be evaluated. In our patient, aside from transient elevations of sarcosine in serum and urine, serum amino acids were consistent with intravenous administration of amino G, glutaric; H, isobutyrylglycine (monoTMS); I, adipic; J, a-hydroxyglutaric; K, isovalerylglycine (monoTMS); L, p-hydroxyphenylacetic.…”

Section: Discussionmentioning

confidence: 99%

Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria Type II) with Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein

et al. 1980

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Summarywith the urinary excretion of large amounts of glutaric acid and smaller, albeit also abnormal, quantities of a-hydroxyglutaric, When acids were infused at a rate d k d d a y , an ethylmalonic, lactic, isobutyric, isovaleric, and a-methylbutyric infant with hypoglycemia, metabolic acidemia and chronic regur-acids. older male sibling had died of a clinically similar gitation hypersarcOsinemia and excreted disorder. Intact fibroblasts from the patient metabolized valine, ~~o u n t s of sarcosine, isovalerylgl~cine, isobut~r~lgl~cine, a-meth-isoleucine, leucine, and glutaric acid at reduced rates, while oxiylbutyrylglycine, and fl-hydroxyis0valeric, glutaric, a-h~drox~glu-dation of pyruvic acid was normal. As these findings were contaric, methylsuccinic, and a-hydroxyisobutyric acids in urine. On sistent with simultaneous deficiency of several ~~~-all other occasions, when protein intake was lower and lipid intake enzymes, an of either FAD synthesis or the electron higher, urine organic acids were dominated by methylsuccinic, transport chain was suggested as the possible site of a primary ethylmalonic, and a-hydroxyglutaric acids, and hypersarcosinemia gene defect (24). was absent. Autopsy showed severe fatty changes in liver, kidneys, The type II designation was meant to distinguish this condition and skeletal muscle. A previous female sibling had died with from glutaric aciduria, a condition is associated with a similar autopsy findings at 4 days of age. While activity of glutaryl-movement disorder (dystonia, athetosis, etc.), increased excretion CoA dehydrogenase was completely deficient in liver and almost of glutaric, glutaconic, and P-hydroxyglutaric acids, and chronic completely so in kidney, it was normal in cultured fibroblasts in degeneration of the caudate and putamen (13,15,20), and which the presence of flavin adenine dinucleotide (FAD) and only mar-is due to recessively inherited deficiency of glutaryl-CoA dehyginally low in its absence. Incorporation of D-(~-'~C) riboflavin drogenase into flavin mononucleotides (FMN) and FAD by kidney tissue was The purpose of this paper is to report biochemical studies in a normal.child with the organic aciduria of glutaric aciduria type I1 inThe authors conclude that this disorder is not due to generalized whom transient hypersarcosinemia and sarcos,nu,.ia were also deficiency glutaryl-COA dehydrOgenase Or a defect in FAD detected. The results presented indicate that the disorder is not synthesis. The amino and organic acid abnormalities noted are due to generalized deficiency o f g l u t a r y l -~o~ dehydrogenase and most consistent with a defect in the flavoprotein which transfers not to a block in FAD synthesis. *lthough the specific the FAD sarcOsine and acy'-COA dehydrOgenases cause of the disease remains obscure, the results are most consistent into the respiratory chain, although a defect in intercompartmental with a defect of the electron transfer flavoprotein which transfers transfer of C4-5 acyl CoA esters across cell membranes is not electrons fr...

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Reye's syndrome and hyperaminoacidemia

Cited by 64 publications

References 16 publications

Biochemical correlates of illness and recovery in Reye's syndrome

Biochemical correlates of illness and recovery in Reye's syndrome

Abnormalities of Carbamyl Phosphate Synthetase and Ornithine Transcarbamylase in Liver of Patients with Reye's Syndrome

Multiple Acyl-CoA Dehydrogenase Deficiency (Glutaric Aciduria Type II) with Transient Hypersarcosinemia and Sarcosinuria; Possible Inherited Deficiency of an Electron Transfer Flavoprotein

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