메뉴 건너뛰기




Volumn 24, Issue 4, 1997, Pages 773-786

Catastrophic metabolic encephalopathies in the newborn period: Evaluation and management

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; AMINO ACID; BETA GALACTOSIDASE; CARBOXYLIC ACID; CARNITINE PALMITOYLTRANSFERASE; FATTY ACID; LACTIC ACID; PYRUVIC ACID; SULFITE OXIDASE; VERY LONG CHAIN FATTY ACID;

EID: 0030694146     PISSN: 00955108     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0095-5108(18)30149-0     Document Type: Review
Times cited : (12)

References (46)
  • 1
    • 0026729604 scopus 로고
    • Detection of inherited neurometabolic disorders: A practical clinical approach
    • Chaves-Caballo E. Detection of inherited neurometabolic disorders: A practical clinical approach Pediatr Clin North Am 39 1992 801
    • (1992) Pediatr Clin North Am , vol.39 , pp. 801
    • Chaves-Caballo, E.1
  • 2
    • 0004020471 scopus 로고
    • Inborn Metabolic Diseases: Diagnosis and Treatment
    • Fernandes J. Saudubray J.-M. van den Berghe Inborn Metabolic Diseases: Diagnosis and Treatment ed 2 1995 Springer-Verlag New York
    • (1995)
    • Fernandes, J.1    Saudubray, J.-M.2    van den Berghe3
  • 3
    • 0004151374 scopus 로고    scopus 로고
    • Neurology of Hereditary Metabolic Diseases of Children
    • Lyon G. Adams R.D. Kolodny E.H. Neurology of Hereditary Metabolic Diseases of Children ed 2 1996 McGraw-Hill New York
    • (1996)
    • Lyon, G.1    Adams, R.D.2    Kolodny, E.H.3
  • 4
    • 0025120844 scopus 로고
    • Clinical approach to inherited metabolic disorders in neonates
    • Saudubray J.-M. Narcy C. Lyonnet L. Clinical approach to inherited metabolic disorders in neonates Biol Neonate 58 1990 44
    • (1990) Biol Neonate , vol.58 , pp. 44
    • Saudubray, J.-M.1    Narcy, C.2    Lyonnet, L.3
  • 5
    • 0003720078 scopus 로고
    • The Metabolic and Molecular Basis of Inherited Disease
    • Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York
    • (1995)
    • Scriver, C.R.1    Beaudet, A.L.2    Sly, W.S.3
  • 6
    • 85119465510 scopus 로고
    • Isovaleric acidemia: Medical and neurodevelopmental effects of long-term therapy. J Pediatr 113:58, 1988 la. Batshaw M: Inborn errors of urea synthesis. Ann Neurol 35:133–141, 1994 lb. Batshaw M, Robinson M, Hyland K, et al: Quinolinic acid in children with congenital hyperammonemia
    • Berry G.T. Yudkoff M. Segal S. Isovaleric acidemia: Medical and neurodevelopmental effects of long-term therapy. J Pediatr 113:58, 1988 la. Batshaw M: Inborn errors of urea synthesis. Ann Neurol 35:133–141, 1994 lb. Batshaw M, Robinson M, Hyland K, et al: Quinolinic acid in children with congenital hyperammonemia Ann Neurol 34 1993 676 681
    • (1993) Ann Neurol , vol.34 , pp. 676-681
    • Berry, G.T.1    Yudkoff, M.2    Segal, S.3
  • 7
    • 0027322675 scopus 로고
    • Peroxisomal disorders: Neurodevelopmental and biochemical aspects
    • Brown F.R. Voigt R. Singh A.K. Peroxisomal disorders: Neurodevelopmental and biochemical aspects Am J Dis Child 147 1993 617
    • (1993) Am J Dis Child , vol.147 , pp. 617
    • Brown, F.R.1    Voigt, R.2    Singh, A.K.3
  • 8
    • 0023838498 scopus 로고
    • “Cerebral” lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis
    • Brown G.K. Hann E.A. Kirby D.M. “Cerebral” lactic acidosis: Defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis Eur J Pediatr 147 1988 10
    • (1988) Eur J Pediatr , vol.147 , pp. 10
    • Brown, G.K.1    Hann, E.A.2    Kirby, D.M.3
  • 10
    • 0001034416 scopus 로고
    • Urea cycle enzymes
    • Brusilow S.W. Horwich A.L. Urea cycle enzymes Scriver C.R. Beaudet A.L. Sly W.S. Valle D. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1187
    • (1995) , pp. 1187
    • Brusilow, S.W.1    Horwich, A.L.2
  • 11
    • 0026561413 scopus 로고
    • The treatment of urea cycle disorders
    • Cederbaum S.D. The treatment of urea cycle disorders Pediatr 7 1992 61
    • (1992) Pediatr , vol.7 , pp. 61
    • Cederbaum, S.D.1
  • 12
    • 0026729604 scopus 로고
    • Detection of inherited neurometabolic disorders: A practical clinical approach
    • Chaves-Caballo E. Detection of inherited neurometabolic disorders: A practical clinical approach Pediatr Clin North Am 39 1992 801
    • (1992) Pediatr Clin North Am , vol.39 , pp. 801
    • Chaves-Caballo, E.1
  • 13
    • 0028859689 scopus 로고
    • Neonatal onset of medium-chain acylcoenzyme A dehydrogenase deficiency with confusing biochemical features
    • Christodoulou J. Hoare J. Hammond J. Neonatal onset of medium-chain acylcoenzyme A dehydrogenase deficiency with confusing biochemical features J Pediatr 126 1995 65
    • (1995) J Pediatr , vol.126 , pp. 65
    • Christodoulou, J.1    Hoare, J.2    Hammond, J.3
  • 14
    • 0001106274 scopus 로고
    • Disorders of branched chain amino acid and keto acid metabolism
    • Chuang D.T. Shih V.E. Disorders of branched chain amino acid and keto acid metabolism Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1239
    • (1995) , pp. 1239
    • Chuang, D.T.1    Shih, V.E.2
  • 15
    • 0026555299 scopus 로고
    • Mitochondrial disorders in pediatrics: Clinical, biochemical, and genetic implications
    • Clarke L.A. Mitochondrial disorders in pediatrics: Clinical, biochemical, and genetic implications Pediatr Clin North Am 39 1992 319
    • (1992) Pediatr Clin North Am , vol.39 , pp. 319
    • Clarke, L.A.1
  • 16
    • 0025799913 scopus 로고
    • Organic acids in aqueous humor and plasma: Post mortem study in infants and diagnosis of enzymopathies
    • Coude M.M. Charpentier C. Bonnefont J.P. Organic acids in aqueous humor and plasma: Post mortem study in infants and diagnosis of enzymopathies J Inher Metab Dis 14 1991 668
    • (1991) J Inher Metab Dis , vol.14 , pp. 668
    • Coude, M.M.1    Charpentier, C.2    Bonnefont, J.P.3
  • 17
    • 0025102408 scopus 로고
    • Mitochondrial defects of brain and muscle
    • DeVivo D.C. DiMauro S. Mitochondrial defects of brain and muscle Biol Neonate 581 1990 54
    • (1990) Biol Neonate , vol.581 , pp. 54
    • DeVivo, D.C.1    DiMauro, S.2
  • 18
    • 0023948588 scopus 로고
    • Investigation of inborn errors of metabolism in unexpected infant deaths
    • Emery J.L. Variend S. Howat A.J. Investigation of inborn errors of metabolism in unexpected infant deaths Lancet 2 1988 29
    • (1988) Lancet , vol.2 , pp. 29
    • Emery, J.L.1    Variend, S.2    Howat, A.J.3
  • 19
    • 0026669059 scopus 로고
    • Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate
    • Eyskens F.J.M. van Doom J.W.D. Marien P. Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate J Pediatr 121 1992 620
    • (1992) J Pediatr , vol.121 , pp. 620
    • Eyskens, F.J.M.1    van Doom, J.W.D.2    Marien, P.3
  • 20
    • 0001362219 scopus 로고
    • Disorders of propionate and methylmalonate metabolism
    • Fenton W.A. Rosenberg L.E. Disorders of propionate and methylmalonate metabolism Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1423
    • (1995) , pp. 1423
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 21
    • 0000787687 scopus 로고
    • Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II
    • Frerman F.E. Goodman S.I. Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1611
    • (1995) , pp. 1611
    • Frerman, F.E.1    Goodman, S.I.2
  • 22
    • 85119461910 scopus 로고    scopus 로고
    • Inborn errors of metabolism
    • Greene C.L. Goodman S.I. Inborn errors of metabolism Hay W.W. Groothuis J.R. Hayward A.R. Current Pediatric Diagnosis and Treatment ed 13 1997 Appleton & Lange Stamford 864
    • (1997) , pp. 864
    • Greene, C.L.1    Goodman, S.I.2
  • 23
    • 0026773083 scopus 로고
    • Dextromethorphan and high dose benzoate therapy for nonketotic hyperglycinemia in an infant
    • Hamosh A. McDonald J.W. Valle D. Dextromethorphan and high dose benzoate therapy for nonketotic hyperglycinemia in an infant J Pediatr 121 1992 131
    • (1992) J Pediatr , vol.121 , pp. 131
    • Hamosh, A.1    McDonald, J.W.2    Valle, D.3
  • 24
    • 0002268111 scopus 로고
    • Nonketotic hyperglycinemia
    • Hamosh A. Johnston M.V. Valle D. Nonketotic hyperglycinemia Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1337
    • (1995) , pp. 1337
    • Hamosh, A.1    Johnston, M.V.2    Valle, D.3
  • 25
    • 0024042701 scopus 로고
    • A newborn infant with respiratory distress and persistent stridulous breathing
    • Hart Z. Change C. A newborn infant with respiratory distress and persistent stridulous breathing J Pediatr 113 1988 150
    • (1988) J Pediatr , vol.113 , pp. 150
    • Hart, Z.1    Change, C.2
  • 26
    • 0002451768 scopus 로고
    • Moybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    • Johnson J.L. Wadman S.K. Moybdenum cofactor deficiency and isolated sulfite oxidase deficiency Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 2271
    • (1995) , pp. 2271
    • Johnson, J.L.1    Wadman, S.K.2
  • 27
    • 0000228425 scopus 로고
    • Disorders of peroxisome biogenesis
    • Lazarow P.B. Moser H.W. Disorders of peroxisome biogenesis Scriver C.R. Beaudet A.L. Sly W.S. The Metabolie and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 2287
    • (1995) , pp. 2287
    • Lazarow, P.B.1    Moser, H.W.2
  • 28
    • 0026512056 scopus 로고
    • Acute ammonia toxicity is mediated by the NMDA type of glutamate receptors
    • Marcaida G. Felipo V. Hermenegildo C. Acute ammonia toxicity is mediated by the NMDA type of glutamate receptors FEBS Lett 296 1992 67 68
    • (1992) FEBS Lett , vol.296 , pp. 67-68
    • Marcaida, G.1    Felipo, V.2    Hermenegildo, C.3
  • 29
    • 0025886368 scopus 로고
    • Retrospective survey of urea cycle disorders: II. Neurological outcome in 49 Japanese patients with urea cycle enzymopathies
    • Nagata N. Matsuda I. Matsuura T. Retrospective survey of urea cycle disorders: II. Neurological outcome in 49 Japanese patients with urea cycle enzymopathies Am J Med Genet 40 1991 477
    • (1991) Am J Med Genet , vol.40 , pp. 477
    • Nagata, N.1    Matsuda, I.2    Matsuura, T.3
  • 30
    • 0025944493 scopus 로고
    • Developmental profile of patients with maple syrup urine disease
    • Nord A. van Doorninck W.J. Greene C. Developmental profile of patients with maple syrup urine disease J Inher Metab Dis 14 1991 881
    • (1991) J Inher Metab Dis , vol.14 , pp. 881
    • Nord, A.1    van Doorninck, W.J.2    Greene, C.3
  • 32
  • 33
    • 0026013155 scopus 로고
    • Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria
    • Pesce F. Cerone R. Caruso U. Acute neonatal isovaleric acidaemia presented without acidosis or ketonuria J Inher Metab Dis 14 1991 111
    • (1991) J Inher Metab Dis , vol.14 , pp. 111
    • Pesce, F.1    Cerone, R.2    Caruso, U.3
  • 34
    • 0026594283 scopus 로고
    • Fumarase deficiency: Two siblings with enlarged cerebral ventricles and polyhydramnios in utero
    • Remes A.M. Rantala H. Hittunen J.K. Fumarase deficiency: Two siblings with enlarged cerebral ventricles and polyhydramnios in utero Pediatrics 89 1992 730
    • (1992) Pediatrics , vol.89 , pp. 730
    • Remes, A.M.1    Rantala, H.2    Hittunen, J.K.3
  • 35
    • 0000048216 scopus 로고
    • Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase)
    • Robinson B.H. Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase) Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1479
    • (1995) , pp. 1479
    • Robinson, B.H.1
  • 36
    • 0000576457 scopus 로고
    • Mitochondrial fatty acid oxidation disorders
    • Roe C.R. Coates P.M. Mitochondrial fatty acid oxidation disorders Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1501
    • (1995) , pp. 1501
    • Roe, C.R.1    Coates, P.M.2
  • 37
    • 0025120844 scopus 로고
    • Clinical approach to inherited metabolic disorders in neonates
    • Saudubray J.-M. Narcy C. Lyonnet L. Clinical approach to inherited metabolic disorders in neonates Biol Neonate 58 1990 44
    • (1990) Biol Neonate , vol.58 , pp. 44
    • Saudubray, J.-M.1    Narcy, C.2    Lyonnet, L.3
  • 38
    • 0023880133 scopus 로고
    • Carnitine plasma concentrations in 353 metabolically healthy children
    • Schmidt-Sommerfeld E. Werner D. Penn D. Carnitine plasma concentrations in 353 metabolically healthy children Eur J Pediatr 147 1988 356
    • (1988) Eur J Pediatr , vol.147 , pp. 356
    • Schmidt-Sommerfeld, E.1    Werner, D.2    Penn, D.3
  • 39
    • 0000913280 scopus 로고
    • Disorders of β- and γ-Amino Acids in Free and Peptide-Linked Forms
    • Scriver C.R. Gibson K.M. Disorders of β- and γ-Amino Acids in Free and Peptide-Linked Forms Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1349
    • (1995) , pp. 1349
    • Scriver, C.R.1    Gibson, K.M.2
  • 40
    • 0000355861 scopus 로고
    • Oxidative phosphorylation diseases
    • Shoffner J.M. Wallace D.C. Oxidative phosphorylation diseases Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1535
    • (1995) , pp. 1535
    • Shoffner, J.M.1    Wallace, D.C.2
  • 41
    • 0024373006 scopus 로고
    • Acute metabolic encephalopathy: A review of causes, mechanisms and treatment
    • Surtees R. Leonard J.V. Acute metabolic encephalopathy: A review of causes, mechanisms and treatment J Inher Metab Dis 12 1989 42
    • (1989) J Inher Metab Dis , vol.12 , pp. 42
    • Surtees, R.1    Leonard, J.V.2
  • 42
    • 0000726723 scopus 로고
    • β-Galactosidase deficiency (β-galactosidosis): GM, gangliosidosis and morquio B disease
    • Suzuki Y. Sakuraba H. Oshima A. β-Galactosidase deficiency (β-galactosidosis): GM, gangliosidosis and morquio B disease Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 2785
    • (1995) , pp. 2785
    • Suzuki, Y.1    Sakuraba, H.2    Oshima, A.3
  • 43
    • 0003237157 scopus 로고
    • Branched chain organic acidurias
    • Sweetman L. Williams J.C. Branched chain organic acidurias Scriver C.R. Beaudet A.L. Sly W.S. The Metabolic and Molecular Basis of Inherited Disease ed 7 1995 McGraw-Hill New York 1387
    • (1995) , pp. 1387
    • Sweetman, L.1    Williams, J.C.2
  • 44
    • 0027232691 scopus 로고
    • Nonketotic hyperglycinaemia: Molecular lesion and pathophysiology
    • Tada K. Kure S. Nonketotic hyperglycinaemia: Molecular lesion and pathophysiology Int Pediatr 8 1993 52
    • (1993) Int Pediatr , vol.8 , pp. 52
    • Tada, K.1    Kure, S.2
  • 45
    • 0026553444 scopus 로고
    • Maple syrup urine disease: Interrelation between branched-chain amino, oxo, and hydroxy acids; implications for treatment; associations with CNS dysmyelination
    • Treacy E. Clow C.L. Reade T.R. Maple syrup urine disease: Interrelation between branched-chain amino, oxo, and hydroxy acids; implications for treatment; associations with CNS dysmyelination J Inher Metab Dis 15 1992 121
    • (1992) J Inher Metab Dis , vol.15 , pp. 121
    • Treacy, E.1    Clow, C.L.2    Reade, T.R.3
  • 46
    • 0027280724 scopus 로고
    • E coli sepsis as a presenting sign in neonatal propionic acidemia
    • Werlin S.L. E coli sepsis as a presenting sign in neonatal propionic acidemia Am J Med Genet 46 1993 455
    • (1993) Am J Med Genet , vol.46 , pp. 455
    • Werlin, S.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.