Sudden infant death syndrome: Organic acid profiles in cerebrospinal fluid from 47 children and the occurrence of<i>N</i>‐acetylaspartic acid

Divry, P.; Vianey-Liaud, C.; Jakobs, Cornelis; Ten-Brink, H. J.; Dutruge, J; Gilly, R

doi:10.1007/bf01799387

Cited by 6 publications

(2 citation statements)

References 6 publications

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“…It was not until small, easy-to-use bench-top mass spectrometers became available that organic acids in CSF could be studied more systematically. Recently, organic acid profiles in CSF have been investigated in the framework of a protocol designed to establish the frequency of inborn errors of metabolism in SIDS (Divry et al 1990;Coude et al 1991;Coude and Kamoun 1992). In these studies only four organic acids were constantly found in control CSFs, namely 2-hydroxybutyrate, 3-hydroxybutyrate, palmitate and stearate.…”

Section: Reference Values For Organic Acids In Csfmentioning

confidence: 99%

Physiology and pathophysiology of organic acids in cerebrospinal fluid

Hoffmann

Meier‐Augenstein

Stöckler

et al. 1993

J of Inher Metab Disea

175

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Concentrations of organic acids in cerebrospinal fluid (CSF) appear to be directly dependent upon their rate of production in the brain. There is evidence that the net release of short-chain monocarboxylic acids from the brain is a major route for removing these products of cerebral metabolism. Concentrations of organic acids in blood and CSF are largely independent of each other. Quantitative reference values for the concentrations of organic acids in CSF and plasma as well as ratios of individual organic acids between CSF and plasma were determined in 35 pairs of samples from paediatric patients. Over 25 organic acids were quantifiable in all or in the majority of CSF and/or plasma specimens (limit of detection 1 mumol/L). There were substantial differences in the CSF/plasma ratios between subgroups of organic acids. Metabolites related to fatty-acid oxidation were present in CSF in substantially less amounts than in plasma. Organic acids related to carbohydrate and energy metabolism and to amino acid degradation were present in CSF in the same amounts as or slightly smaller amounts than in plasma. Finally, some organic acids were found in substantially higher amounts in CSF than in plasma, e.g. glycolate, glycerate, 2,4-dihydroxybutyrate, citrate and isocitrate. Studies of organic acids in CSF and plasma samples are presented from patients with 'cerebral' lactic acidosis, disorders of propionate and methylmalonate metabolism, glutaryl-CoA dehydrogenase deficiency and L-2-hydroxy-glutaric aciduria. It became apparent that derangements of organic acids in the CSF may occur independently of the systemic metabolism. Quantitative organic acid analysis in CSF will yield new information on the pathophysiology in the central nervous system (CNS) of these disorders and may prove necessary for successful monitoring of treatment of organoacidopathies, which present mainly with neurological disease. For example, in glutaryl-CoA dehydrogenase deficiency the urinary excretion of glutarate appears to be an inadequate parameter for monitoring the effect of dietary therapy, without plasma and CSF determinations. In L-2-hydroxyglutaric aciduria the elevation of L-2-hydroxyglutarate was found to be greater in CSF than in plasma. In addition, some other organic acids, glycolate, glycerate, 2,4-dihydroxybutyrate, citrate and isocitrate, were also elevated in the CSF of the patients out of proportion to normal levels in plasma and urine. High concentrations of an unknown compound, which was tentatively identified as 2,4-dihydroxyglutarate, were found in the CSF of patients with L-2-hydroxyglutaric aciduria.(ABSTRACT TRUNCATED AT 400 WORDS)

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Section: Reference Values For Organic Acids In Csfmentioning

confidence: 99%

Physiology and pathophysiology of organic acids in cerebrospinal fluid

Hoffmann

Meier‐Augenstein

Stöckler

et al. 1993

J of Inher Metab Disea

175

View full text Add to dashboard Cite

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“…Moreover, autopsy, if done, had revealed extensive fatty infiltration of the liver and other organs. In addition to these selected cases, 6 more comprehensive biochemical and histopathological studies of 601 cases of unexplained child death revealed 3 cases of MCAD deficiency [4,11,12,17,19,35]. Again, none of the children had been healthy before death and all had fatty infiltration of the liver and other organs.…”

Section: Discussionmentioning

confidence: 98%

Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

et al. 1994

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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid metabolism and typically presents in early childhood as potentially fatal hypoketotic, hypoglycaemic crisis often associated with Reye-like symptoms. Re-investigations of cases of sudden infant death syndrome (SIDS) have revealed in some instances a deficiency of MCAD, suggesting that this metabolic disorder may lead to sudden infant death without prior clinical symptoms. In the present study, we examined 142 infants who had suffered from an apparent life-threatening event (ALTE) or were otherwise considered at risk for SIDS for MCAD deficiency by phenylpropionate loading. In no case excretion of phenylpropionylglycine, the hallmark of MCAD deficiency, was increased. In contrast, 3 out of 55 children with symptoms of metabolic disorders showed increased phenylpropionylglycine excretion, and in all three cases MCAD deficiency was confirmed by DNA analysis. In addition, we investigated 142 cases of sudden unexplained child death and 100 control subjects for the A985G mutation in the MCAD gene which is associated with about 98% of enzyme deficiencies. We found one case of heterozygosity each in the patient and control group. Our data indicate that MCAD deficiency is not a major cause of ALTE and, in agreement with results from similar studies in other countries, its frequency is not increased in children who died of SIDS.

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Organic acids in post-mortem cerebrospinal fluid

Coude

Kamoun

1992

Clinica Chimica Acta

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Sudden infant death syndrome: Organic acid profiles in cerebrospinal fluid from 47 children and the occurrence ofN‐acetylaspartic acid

Cited by 6 publications

References 6 publications

Physiology and pathophysiology of organic acids in cerebrospinal fluid

Physiology and pathophysiology of organic acids in cerebrospinal fluid

Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis

Organic acids in post-mortem cerebrospinal fluid

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