A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine / M. G. BAAL in Developmental Medicine & Child Neurology, 23-4 (August 1981)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 23-4 (August 1981) . - p.521-530 Titre : A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine Type de document : Texte imprimé et/ou numérique Auteurs : M. G. BAAL, Auteur ; F. J. M. GABREELS, Auteur ; W. O. RENIER, Auteur ; F. A. HOMMES, Auteur ; Th. H. J. GIJSBERS, Auteur ; K. J. B. LAMERS, Auteur ; J. C. N. KOK, Auteur Année de publication : 1981 Article en page(s) : p.521-530 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A seven-year-old girl with slowly progressive motor neurological impairment and high levels of lactate and pyruvate in blood and cerebrospinal fluid was found to have severe hepatic pyruvate carboxylase deficiency. However, in contrast to other patients with this deficiency, no mental retardation was apparent. Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition. The level of cognitive functioning remained the same. When treatment with aspartic acid was temporarily discontinued, lactate and pyruvate concentrations increased so markedly that the drug was resumed. This indicates that aspartic acid was the effective drug, and that the effect of thiamine was secondary. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=523 [article] A patient with pyruvate carboxylase deficiency in the liver: treatment with aspartic acid and thiamine [Texte imprimé et/ou numérique] / M. G. BAAL, Auteur ; F. J. M. GABREELS, Auteur ; W. O. RENIER, Auteur ; F. A. HOMMES, Auteur ; Th. H. J. GIJSBERS, Auteur ; K. J. B. LAMERS, Auteur ; J. C. N. KOK, Auteur . - 1981 . - p.521-530. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 23-4 (August 1981) . - p.521-530 Index. décimale : PER Périodiques Résumé : A seven-year-old girl with slowly progressive motor neurological impairment and high levels of lactate and pyruvate in blood and cerebrospinal fluid was found to have severe hepatic pyruvate carboxylase deficiency. However, in contrast to other patients with this deficiency, no mental retardation was apparent. Treatment with aspartic acid and thiamine over a period of seven years resulted in biochemical improvement and a stable neurological condition. The level of cognitive functioning remained the same. When treatment with aspartic acid was temporarily discontinued, lactate and pyruvate concentrations increased so markedly that the drug was resumed. This indicates that aspartic acid was the effective drug, and that the effect of thiamine was secondary. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=523

---

1 (1 - 1 / 1)