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Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II
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| Zeitschriftentitel: | Journal of Inherited Metabolic Disease |
|---|---|
| Personen und Körperschaften: | , , , , , , |
| In: | Journal of Inherited Metabolic Disease, 3, 1980, 1, S. 67-72 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
|
| Schlagwörter: |
| author_facet |
Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. |
|---|---|
| author |
Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. |
| spellingShingle |
Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. Journal of Inherited Metabolic Disease Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II Genetics (clinical) Genetics |
| author_sort |
gregersen, n. |
| spelling |
Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. 0141-8955 1573-2665 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1007/bf02312527 <jats:title>Abstract</jats:title><jats:p>The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3‐hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2‐methylbutyric acid, adipic acid, caproylglycine, 5‐hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3‐hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl‐CoAs and sarcosine. Normal activity of glutaryl‐CoA dehydrogenase was found, excluding glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I).</jats:p> Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II Journal of Inherited Metabolic Disease |
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| title |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_unstemmed |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_full |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_fullStr |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_full_unstemmed |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_short |
Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_sort |
biochemical studies in a patient with defects in the metabolism of acyl‐coa and sarcosine: another possible case of glutaric aciduria type ii |
| topic |
Genetics (clinical) Genetics |
| url |
http://dx.doi.org/10.1007/bf02312527 |
| publishDate |
1980 |
| physical |
67-72 |
| description |
<jats:title>Abstract</jats:title><jats:p>The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3‐hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2‐methylbutyric acid, adipic acid, caproylglycine, 5‐hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3‐hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl‐CoAs and sarcosine. Normal activity of glutaryl‐CoA dehydrogenase was found, excluding glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I).</jats:p> |
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| author | Gregersen, N., Kølvraa, S., Rasmussen, K., Christensen, E., Brandt, N. J., Ebbesen, F., Hansen, F. H. |
| author_facet | Gregersen, N., Kølvraa, S., Rasmussen, K., Christensen, E., Brandt, N. J., Ebbesen, F., Hansen, F. H., Gregersen, N., Kølvraa, S., Rasmussen, K., Christensen, E., Brandt, N. J., Ebbesen, F., Hansen, F. H. |
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| description | <jats:title>Abstract</jats:title><jats:p>The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3‐hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2‐methylbutyric acid, adipic acid, caproylglycine, 5‐hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3‐hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl‐CoAs and sarcosine. Normal activity of glutaryl‐CoA dehydrogenase was found, excluding glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I).</jats:p> |
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| imprint | Wiley, 1980 |
| imprint_str_mv | Wiley, 1980 |
| institution | DE-D275, DE-Bn3, DE-Brt1, DE-D161, DE-Gla1, DE-Zi4, DE-15, DE-Rs1, DE-Pl11, DE-105, DE-14, DE-Ch1, DE-L229 |
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| spelling | Gregersen, N. Kølvraa, S. Rasmussen, K. Christensen, E. Brandt, N. J. Ebbesen, F. Hansen, F. H. 0141-8955 1573-2665 Wiley Genetics (clinical) Genetics http://dx.doi.org/10.1007/bf02312527 <jats:title>Abstract</jats:title><jats:p>The clinical and biochemical abnormalities in a neonate, who died in coma accompanied by severe hypoglycaemia at the age of 3 days, are described. The study of the urinary metabolic profiles of organic acids and amino acids revealed that the excretion rates of glutaric acid, isovaleric acid, isovalerylglycine, 3‐hydroxyisovaleric acid and isobutyric acid were very high. Increased excretion rates were also found for 2‐methylbutyric acid, adipic acid, caproylglycine, 5‐hydroxycaproic acid, caproic acid and butyric acid. The amino acid, sarcosine, was excreted in enhanced amounts and the patient had lactic aciduria, whereas the excretion of 3‐hydroxybutyric acid was only moderately increased. This abnormal excretion pattern is consistent with a defect in the metabolism of acyl‐CoAs and sarcosine. Normal activity of glutaryl‐CoA dehydrogenase was found, excluding glutaryl‐CoA dehydrogenase deficiency (glutaric aciduria type I).</jats:p> Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II Journal of Inherited Metabolic Disease |
| spellingShingle | Gregersen, N., Kølvraa, S., Rasmussen, K., Christensen, E., Brandt, N. J., Ebbesen, F., Hansen, F. H., Journal of Inherited Metabolic Disease, Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II, Genetics (clinical), Genetics |
| title | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_full | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_fullStr | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_full_unstemmed | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_short | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| title_sort | biochemical studies in a patient with defects in the metabolism of acyl‐coa and sarcosine: another possible case of glutaric aciduria type ii |
| title_unstemmed | Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II |
| topic | Genetics (clinical), Genetics |
| url | http://dx.doi.org/10.1007/bf02312527 |