VassaultABonnefontJPSpecolaNSaudubrayJ-M. Lactate, pyruvate and ketone bodies. In: HommesFA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 1991: 285–308.
2.
DeVivoDCDiMauroS. Disorders of pyruvate metabolism, the citric acid cycle, and the respiratory chain. In: FernandesJSaudubrayJ-MTadaK. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 1990: 127–60.
3.
RobinsonBHTaylorJSherwoodWG. The genetic heterogeneity of lactic acidosis: Occurrence of recognizable inborn errors of metabolism in a pediatric population with lactic acidosis. Pediatr Res1980: 14: 956–62.
4.
MerineroBPerez-CerdaCUgarteM. Investigation of enzyme defects in children with lactic acidosis. J Inher Metab Dis1992; 15: 696–706.
5.
RobinsonBH. Lactic acidosis. In: ScriverCRBeaudetALSlyWSValleD, eds. The Metabolic Basis of Inherited Disease, 6th edn.New York: McGraw Hill, 1989: 869–88.
6.
KreisbergRA. Glucose-lactate interactions in man. N Engl J Med1973; 287: 132–7.
7.
OlivaPB. Lactic acidosis. Am J Med1970; 48: 209–25.
8.
KolleeLAAWillemsJLDeKortAFMMonnensLAHTrijbelsJMF. Blood sampling technique for lactate and pyruvate estimation in children. Ann Clin Biochem1977; 14: 285–7.
9.
BozimowskiDArtissJDZakB. Sensitive determination of cerebrospinal fluid pyruvate, lactate and glucose concentrations. Clin Chim Acta1985; 152: 63–9.
10.
PanteghiniMPaganiF. Biological variation of lactate and pyruvate in blood. Clin Chem1993; 39: 908.
11.
CedarbaumSDBlassJPMinkoffNBrownWJCottonMEHarrisSH. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. Pediatr Res1976; 10: 713–20.
12.
FalkRECedarbaumSDBlassJPGibsonGEKarkAPCarrelRE. Ketonic diet in the management of pyruvate dehydrogenase deficiency. Pediatrics1976; 58: 713–21.
GosselTABrickerJD. Principles of Clinical Toxicology. New York: Raven Press, 1990: 242–9.
17.
SmithRP. Toxic responses of the blood. In: KlaassenCDAmdurMODoulJ, eds. Toxicology: The Basic Science of Poisons. New York: McMillan, 1986; 223–44.
18.
ZabrodskiRMSchnurrLP. Anion gap acidosis with hypoglycemia in acetaminophen toxicity. Ann Emer Med1984; 13: 956–9.
19.
ChalmersRA. Organic acids in urine of patients with congenital lactic acidosis: An aid to differential diagnosis. J Inher Metab Dis1984; 7(Suppl 1): 79–89.
20.
IllingworthBCoriGTCoriCF. Amylo-1,6-glucosidase in muscle tissue in generalized glycogen storage disease. J Biol Chem1956; 218: 123.
FernandesJ. The glycogen storage diseases. In: FernandesJSaudubrayJ-MTadaK, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer-Verlag, 1990: 69–88.
23.
GitzelmannRSteinmannBVan Den BergheG. Disorders of fructose metabolism. In: ScriverCRBeaudetALSlyWSValleD, eds. The Metabolic Basis of Inherited Disease, 6th edn.New York: McGraw Hill, 1989: 399–424.
VindesJSovikO. Gluconeogenesis in infancy and childhood. III. Deficiency of the extramitochondrial form of hepatic phosphoenolpyruvate carboxykinase in a case of persistent neonatal hypoglycemia. Acta Paediatr Scand1976; 65: 307–12.
RobinsonBHMacMillanHPetrova-BenedictPSherwoodG. Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. J Pediatr1987; 111: 525–33.
29.
SweetmanL. Organic acid analysis. In: HommesFA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 1991: 143–76.
30.
HawkinsRAWilliamsonDHKrebsHA. Ketone body utilization by adult and suckling brainin vivo. Biochem J1971; 122: 13–18.
31.
KrausHSchlenkerSSchwedeskyD. Developmental changes of cerebral ketone body utilization in human infants. Hoppe-Seylers Z Physiol Chem1974; 353: 164–8.
32.
WhitehouseSCooperRHRandlePJ. Mechanism of activation of pyruvate dehydrogenase by dicholroacetate and other halogenated carboxylic acids. Biochem J1974; 141: 761.
33.
UzielGGaravagliaBdi DonatoS. Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria. Muscle Nerve1988; 11: 720–4.
34.
WexlerIDHemalathaGTe-ChungLBerrySAKerrDSPatelMS. A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency. Pediatr Res1992; 32: 169–74.
FreytagSOCollierK, Molecular cloning of a cDNA for human pyruvate carboxylase: Structural relationship to other biotin containing carboxylases and regulation of mRNA content in differentiating pre-adipocytes. J Biol Chem1984; 259: 12831–7.
37.
BaalMGGabreelsFJMRenierWOHummesFAGijabersThLamersKJBA patient with pyruvate carboxylase deficiency in the liver; treatment with aspartic acid and thiamine. Dev Med Child Neurol1981; 23: 521–30.
38.
SaundersMSweetmanLRobinsonBRothKCohnRGravelRA. Biotin responsive organic aciduria. Multiple carboxylase defect and complementation studies with propionic aciduria in cultured fibroblasts. J Clin Invest1979; 64: 1695–702.
39.
RemesAMRantalaHHiltunenJKLeistiJRuokonenA. Fumarase deficiency: Two siblings with enlarged cerebral ventricles and polyhydramnios in utero. Pediatrics1992; 89: 730–4.
40.
RobinsonBHTaylorJSherwoodWG. Deficiency of dihydrolipoyl dehydrogenase (a component of pyruvate and ketoglutarate dehydrogenase complexes). A cause of congenital chronic lactic acidosis in infancy. Pediatr Res1977; 11: 1198–202.
AprilleJR. Mitochondrial cytopathies and mitochondrial DNA mutations. Curr Opin Pediatr1991; 3: 1045–54.
43.
DiMauroSZevianaMBonillaEBresolinNNakagawaMMirandaAFCytochrome c oxidase deficiency. Trans Biochem Soc1985; 13: 651.
44.
EngelWKCunninghamCG. Rapid examination of muscle tissue: An improved trichrome stain for fresh-frozen biopsy sections. Neurology1963; 13: 919–23.
45.
MoraesCTDiMauroSZevianiMLombesAShanskeSMirandaAFMitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med1989; 320: 1293–9.
46.
ShoffnerJMLottMTLezzaAMSiebelPBallingerSWWallaceDC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(lys) mutation. Cell1990; 61: 931–7.
47.
PavlakisSGPhillipsPCDiMauroSDeVivoDCRolandLP. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A distinctive clinical syndrome. Ann Neurol1984; 16: 481–8.