Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency

D. Lonsdale, W.R. Faulkner, J.W. Price andR.R. Smeby,Intermittent Cerebellar Ataxia Associated with Hyperpyruvic Acidemia, Hyperalaninemia, and Hyperalaninuria, Pediatrics43, 1025–1034 (1969).

C. Wernicke,Lehrbuch der Gehrinkrankheiten für Aerzte und Studierende (Theodor Fischer, Berlin, 1881).

J.P. Blass, R.A.P. Kark andW.K. Engel,Clinical Studies of a Patient with Pyruvate Decarboxylase Deficiency, Arch. Neurol.25, 449–460 (1971).

J.P. Blass, J. Avigan andB.W. Uhlendorf,A Defect in Pyruvate Decarboxylase in a Child with an Intermittent Movement Disorder, J. Clin. Invest.49, 423–432 (1970).

J.P. Blass, J.D. Schulman, D.S. Young andE. Hom,An Inherited Defect Affecting the Tricarboxylic Acid Cycle in a Patient with Congenital Lactic Acidosis, J. Clin. Invest.51, 1845–1851 (1972).

J.L. Willems, L.A.H. Mommens, J.M.F. Trijbels, R.C.A. Sengers andJ.H. Veerkamp,Pyruvate Decarboxylase Deficiency in Liver, N. Engl. J. Med.290, 406–407 (1974).

D.F. Farrell, A.F. Clark, C.R. Scott andR.P. Wennberg,Absence of Pyruvate Decarboxylase Activity in Man: A Cause of Congenital Lactic Acidosis, Science187, 1082–1084 (1974).

B.H. Robinson andW.G. Sherwood,Pyruvate Dehydrogenase Phosphatase Deficiency: A Cause of Congenital Chronic Lactic Acidosis in Infancy, Pediat. Res.9, 935–939 (1975).

Y. Oka, I. Matsuda, S. Arashima, M. Anakura, T. Mitsuyama andI. Nagamatsu,Citrate Treatment in a Patient with Pyruvate Decarboxylase Deficiency, Tohoku J. exp. Med.118, 131–135 (1976).

S.D. Cederbaum, J.P. Blass, N. Minkoff, W.J. Brown, Mary E. Cotton andSandra H. Harris,Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase Deficiency, Pediat. Res.10, 713–720 (1976).

J.H. Strömme, O. Borud andP.J. Moe,Fatal Lactic Acidosis in a Newborn Attributable to a Congenital Defect of Pyruvate Dehydrogenase, Pediat. Res.10, 60–66 (1976).

J.P. Blass, R.A.P. Kark andN.K. Menon,Low Activities of the Pyruvate and Oxoglutarate Dehydrogenase Complexes in Five Patients with Friedreich's Ataxia, N. Engl. J. Med.295, 62–67 (1976).

J.C. Haworth, T.L. Perry, J.P. Blass, Shirley Hansen andNadine Urquhart,Lactic Acidosis in Three Sibs Due to Defects in Both Pyruvate Dehydrogenase and a-Ketoglutarate Dehydrogenase Complexes, Pediatrics58, 564–572 (1976).

R.E. Falk, S.D. Cederbaum, J.P. Blass, Gary E. Gibson, R.A.P. Kark andR.E. Carrel,Ketonic Diet in the Management of Pyruvate Dehydrogenase Deficiency, Pediatrics58, 713–721 (1976).

H. Wick, unpublished observation.

T. Brechbühler, R. Baumgartner andH. Wick,Früherfassung von Stoffwechselkrankheiten bei Säuglingen: das erweiterte Screening-Programm bei kranken Säuglingen, Chemische Rundschau26, 15 (1973).

J.C.B. Fenton andA.H. Williams,Improved Method for the Estimation of Ammonia by Ion Exchange, J. Clin. Path.21, 14–18 (1968).

J.P. Blass, S.D. Cederbaum andR.A.P. Kark,Rapid Diagnosis of Pyruvate and Ketoglutarate Dehydrogenase Deficiencies in Platelet-Enriched Preparations from Blood, Clinica Chimica Acta75, 21–30 (1977).

J. Fernandes andW. Blom,The Intravenous L-Alanine Tolerance Tests as a Means for Investigating Gluconeogenesis, Metabolism23, 1149–1156 (1974).

H.A. Harper, G. Löffler, P.E. Petrides andL. Weiss,Physiologische Chemie, S. 283 (Springer, Berlin, Heidelberg, New York, 1975).

T.E. Roche andL.J. Reed,Function of the Nonidentical Subunits of Mammalian Pyruvate Dehydrogenase, Biochem. Biophys. Res. Commun.48, 840 (1972).

F.A. Hommes, R. Berger andG. Luit-De-Haan,The Effect of Thiamine Treatment on the Activity of Pyruvate Dehydrogenase: Relation to the Treatment of Leigh's Encephalomyelopathy, Pediat. Res.7, 616–619 (1973).