PMID: 2501097Apr 1, 1989Paper

Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia

European Journal of Pediatrics
D J ByrdD H Hunneman

Abstract

A 2-day-old girl developed a severe lactic acidosis with a normal lactate/pyruvate ratio and hyperammonaemia. Plasma arginine and citrulline levels were below the limit of detection. In muscle total pyruvate dehydrogenase complex (PDHC) and pyruvate decarboxylase (E1) activities were reduced to a fraction of lower control values. The acute neonatal period was bridged with peritoneal dialysis, dichloroacetate therapy, supplements of arginine and branched chain amino acids, a complete vitamin B complex and lipoic acid. Lactate homeostasis responded to pharmacological supplements of lipoic acid. At age 1 year the child was hypotonic, showed severe developmental retardation, optic atrophy and cranial dysmorphism. She died aged 1 year 8 months with signs of respiratory paralysis but with normal lactate levels under assisted breathing. Pathological findings at autopsy were suggestive of Leigh syndrome, interstitial pneumonia and extensive fatty infiltration of hepatocytes. Regression analysis of data from 187 plasma amino acid determinations from the patient over a period of 1 year 8 months revealed a persistent-imbalance involving alanine, glutamic acid, glutamine, proline, citrulline and branched chain amino acids. Aspects of acute...Continue Reading

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Citations

Jul 1, 1995·Brain & Development·M PinedaM O Rolland
Jan 1, 1997·Free Radical Biology & Medicine·L PackerK Wessel
Dec 1, 1994·Acta Paediatrica. Supplement·M HjelmA Antoshechkin
Mar 13, 1998·Archives of Disease in Childhood·P W StacpooleD S Kerr
Nov 1, 1994·Journal of Medical Genetics·G K BrownR M Brown
Aug 1, 2002·Pediatric Research·Angèle ViolaPatrick J Cozzone
Apr 1, 1993·European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies·D J ByrdJ Brodehl
Apr 9, 2004·Proceedings of the National Academy of Sciences of the United States of America·Michael R TaylorSusan E Brockerhoff
Oct 15, 2013·British Journal of Pharmacology·M KanabusS Rahman
Sep 8, 2004·Brain & Development·Masato MoriMariko Y Momoi
Jul 1, 1992·Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners·G R Goldberg, C L Greene
May 27, 2006·Mitochondrion·Kristen BerendzenPeter W Stacpoole
May 18, 1999·The American Journal of Physiology·E L DillonG Wu
Apr 3, 2001·Current Treatment Options in Neurology·Roser Pons, Darryl C. De Vivo

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