Isolated neonatal seizures: When to suspect inborn errors of metabolism

Pediatric Neurology

Volumn 45, Issue 5, 2011, Pages 283-291

  Ficicioglu, Can ^a   Bearden, David ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 PHOSPHOSERINE PHOSPHATASE; 4 AMINOBUTYRATE AMINOTRANSFERASE; ALDEHYDE DEHYDROGENASE; ALPHA AMINOADIPIC SEMIALDEHYDE DEHYDROGENASE; ANTICONVULSIVE AGENT; ANTIOXIDANT; BENZOIC ACID; CREATINE; DIHYDROPYRIMIDINE DEHYDROGENASE; FOLINIC ACID; GLUCOSE TRANSPORTER 1; GLYCINE; MOLYBDENUM; PHOSPHATASE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; SERINE; SULFITE OXIDASE; UNCLASSIFIED DRUG;

3 PHOSPHOSERINE PHOSPHATASE DEFICIENCY; 4 AMINOBUTYRATE AMINOTRANSFERASE DEFICIENCY; ADD ON THERAPY; AMINO ACID BLOOD LEVEL; ANTICONVULSANT THERAPY; CEREBROSPINAL FLUID ANALYSIS; CONGENITAL NEURONAL CEROID LIPOFUSCINOSIS; CONSERVATIVE TREATMENT; CREATINE DEFICIENCY SYNDROME; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISEASE ASSOCIATION; DISORIENTATION; EARLY DIAGNOSIS; ENZYME DEFICIENCY; GLUCOSE TRANSPOSRTER TYPE 1 DEFICIENCY; HUMAN; HYPERGLYCINEMIA; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; METABOLIC DISORDER; MOLYBDENUM COFACTOR DEFICIENCY; NEONATAL SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NYSTAGMUS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; PYRIDOXAL PHOSPHATE DEPENDENT SEIZURE; PYRIDOXINE DEFICIENCY; PYRIDOXINE DEPENDENT SEIZURE; RECOMMENDED DRUG DOSE; REVIEW; SEIZURE; SULFITE OXIDASE DEFICIENCY; SYMPTOMATOLOGY; TREATMENT RESPONSE; VITAMIN SUPPLEMENTATION; VOMITING;

ANIMALS; DIAGNOSIS, DIFFERENTIAL; DIETARY SUPPLEMENTS; EPILEPSY, BENIGN NEONATAL; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; SEIZURES;

EID: 80054101308     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2011.07.006     Document Type: Review

References (35)

1. B. Plecko, K. Paul, E. Paschke, S. Stoeckler-Ipsiroglu, E. Struys, and C. Jakobs Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene Hum Mutat 28 2007 19 26 (Pubitemid 46036210)
2. P. Baxter Pyridoxine-dependent and pyridoxine responsive seizures Dev Med Child Neurol 43 2001 416 420
3. A. Bok, E. Struys, M. Willemsen, J.V. Been, and C. Jakobs Pyridoxine-dependent seizures in Dutch patients: Diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels Arch Dis Child 92 2007 687 689 (Pubitemid 47217128)
4. R.C. Gallagher, J.L. Van Hove, and G. Scharer Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy Ann Neurol 65 2009 550 556
5. J. Nicolai, V. van Kranen-Mastenbroek, R. Wevers, W. Hurkx, and J. Vles Folinic acid-responsive seizures initially responsive to pyridoxine Pediatr Neurol 34 2006 165 167
6. F.J. Hansen, and N. Blau Cerebral folate defciency: Life-changing supplementation with folinic acid Mol Genet Metab 84 2005 371 373 (Pubitemid 40386886)
7. S. Bagci, J. Zschocke, and G.F. Hoffmann Pyridoxal phosphate-dependent neonatal epileptic encephalopathy Arch Dis Child Fetal Neonatal 93 2008 151 152
8. T.J. De Koning, J. Jaeken, M. Pineda, L. Van Maldergem, T. Poll-The, and M.S. van der Knaap Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency Neuropediatrics 31 2000 287 292 (Pubitemid 32216607)
9. T.J. De Koning, M. Duran, L. Van Maldergem, M. Pineda, L. Dorland, and R. Gooskens Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids J Inherit Metab Dis 25 2002 119 125 (Pubitemid 34700300)
10. T. Cokun, H.I. Aydin, and M. Kili 3-phosphoglycerate dehydrogenase deficiency: a case report of a treatable cause of seizures Turk J Pediatr 51 2009 587 592
11. T.J. De Koning, L.W.J. Klomp, and A.C.C. van Oppen Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency Lancet 364 2004 2221 2222 (Pubitemid 40018453)
12. D. Wang, J.M. Pascual, and H. Yang GLUT-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects Ann Neurol 57 2005 111 118 (Pubitemid 40053322)
13. A. von Moers, K. Brockmann, and D. Wang EEG features of GLUT-1 deficiency syndrome Epilepsia 43 2002 941 945 (Pubitemid 34857874)
14. J.M. Pascual, R.L. van Heertum, D. Wang, K. Engelstad, and D.C. De Vivo Imaging the metabolic footprint of GLUT1 deficiency on the brain Ann Neurol 52 2002 458 464
15. R.P. Bhamkar, and P. Colaco Neonatal nonketotic hyperglycinemia Indian J Pediatr 74 2007 1124 1126
16. Y.H. Chien, C.C. Hsu, and A. Huang Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan J Child Neurol 19 2004 39 42 (Pubitemid 38351325)
17. J.O. Sass, A. Gunduz, and A. Rodrigues Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia Brain Dev 32 2010 544 549
18. H. Per, H. Gümü, K. Ichida, O. Calayan, and S. Kumanda Molybdenum cofactor deficiency: Clinical features in a Turkish patient Brain Dev 29 2007 365 368 (Pubitemid 46670671)
19. S.D. Sie, R.C. de Jonge, and H.J. Blom Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency J Inherit Metab Dis 2010 Sept 24 (Epub ahead of print)
20. M. Topcu, T. Coskun, G. Haliloglu, and I. Saatci Molybdenum cofactor deficiency: Report of three cases presenting as hypoxic-ischemic encephalopathy J Child Neurol 16 2001 264 270 (Pubitemid 32452001)
21. C. Hoffmann, B. Ben-Zeev, and Y. Anikster Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency J Child Neurol 10 2007 1214 1221
22. A. Veldman, J.A. Santamaria-Araujo, and S. Sollazzo Successful treatment of molybdenum cofactor deficiency type A with cPMP Pediatrics 125 2010 e1249 e1254
23. E. Siintola, S. Partanen, and P. Stroemme Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis Brain 129 2006 1438 1445 (Pubitemid 43999376)
24. K. Fritchie, E. Siintola, and D. Armao Novel mutation and the first prenatal screening of cathepsin D defciency (CLN10) Acta Neuropathol (Berl) 117 2009 201 208
25. J. Jaeken, P. Casaer, and P. de Cock Gamma-aminobutyric acid-transaminase deficiency: A newly recognized inborn error of neurotransmitter metabolism Neuropediatrics 15 1984 165 169 (Pubitemid 15178909)
26. L.K. Medina-Kauwe, A.J. Tobin, and L. De Meirleir 4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency J Inherit Metab Dis 22 1999 414 427 (Pubitemid 29281034)
27. M. Tsuji, N. Aida, and T. Obata A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy J Inherit Metab Dis 33 2010 85 90
28. A.B.P. Van Kuilenburg, P. Vreken, G.G.M. Abeling, H.D. Bakker, R. Meinsma, and H. Van Lenthe Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency Hum Genet 104 1999 1 9 (Pubitemid 29134634)
29. E.K.C. Yau, C.C. Shek, K.Y. Chan, and A.Y.W. Chan Dihydropyrimidine dehydrogenase deficiency: A baby boy with ocular abnormalities, neonatal seizure and global developmental delay Hong Kong J Paediatr 9 2004 167 170
30. K.M. Au, C.K. Lai, Y.P. Yuen, and A.Y.W. Chan Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria Hong Kong Med J 9 2003 130 132 (Pubitemid 36406697)
31. S. Stockler, P.W. Schutz, and G.S. Salomons Cerebral creatine deficiency syndromes: Clinical aspects, treatment and pathophysiology Subcell Biochem 46 2007 149 166
32. F. Nasrallah, M. Feki, and N. Kaabachi Creatine and creatine deficiency syndromes: Biochemical and clinical aspects Pediatr Neurol 42 2010 163 171
33. V. Leuzzi, M.C. Bianchi, and M. Tosetti Brain creatine depletion: Guanidinoacetate methyltransferase deficiency (improving with creatine supplementation) Neurology 55 2000 1407 1409
34. R. Battini, M.G. Alessandr, and V. Leuzzi Arginine:glycine amidinotransferase deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease J Pediatr 148 2006 828 830 (Pubitemid 43870091)
35. I.A. Anselm, F.S. Alkuraya, and G.S. Salomons X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype J Inherit Metab Dis 29 2006 214 219