Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms

Cell Biochemistry and Biophysics

Volumn 72, Issue 1, 2015, Pages 61-65

  Liu, Xiao Ming ^a   Li, Rui ^a   Chen, Sheng Zhi ^a   Sang, Yan ^a   Chen, Jiao ^a   Fan, Cong Hai ^a  

^a XUZHOU CHILDREN S HOSPITAL   (China)

Author keywords

Infantile spasms; Inherited metabolic disorders; Screening

Indexed keywords

ANTICONVULSIVE AGENT; BIOTIN; GLUTARYL COENZYME A DEHYDROGENASE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; BRAIN DISEASES, METABOLIC; CHEMISTRY; COMPLICATION; DEFICIENCY; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GAS CHROMATOGRAPHY; HUMAN; INFANT; LIVER; LIVER FUNCTION TEST; MALE; MASS SCREENING; MASS SPECTROMETRY; METABOLIC DISEASES; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PHENYLKETONURIAS; SPASMS, INFANTILE; URINE; X-RAY COMPUTED TOMOGRAPHY;

AMINO ACID METABOLISM, INBORN ERRORS; ANTICONVULSANTS; BIOTIN; BRAIN; BRAIN DISEASES, METABOLIC; CHROMATOGRAPHY, GAS; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; LIVER; LIVER FUNCTION TESTS; MAGNETIC RESONANCE IMAGING; MALE; MASS SCREENING; MASS SPECTROMETRY; METABOLIC DISEASES; PHENYLKETONURIAS; SPASMS, INFANTILE; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84930415898     PISSN: 10859195     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12013-014-0404-8     Document Type: Article

References (16)

1. Shields, W. D. (2006). Infantile spasms: Little seizures, BIG consequence. Epilepsy Currents,6, 63–69.
2. Lux, A. L., & Osborne, J. P. (2004). A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: Consensus statement of the West Delphi group. Epilepsia,45, 1416–1428.
3. Gkampeta, A., & Pavlou, E. (2012). Infantile spasms (West syndrome) in children with inborn errors of metabolism: A review of the literature. Journal of Child Neurology,27(10), 1295–1301.
4. Campistol, J., & Garcìa-Casoria, A. (2003). West syndrome analysis, etiological factors and therapeutic options. Revue Neurologique,37, 345–352.
5. Engel, J. J. (2001). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology. Epilepsia,42(6), 796–803.
6. Mackay, M. T., Weiss, S. K., Adams, W., et al. (2004). Medical treatment of infantile spasms. Neurology,62(10), 1668–1681.
7. Hrachovy, R. A., & Frost, J. D, Jr. (2013). Infantile spasms. Handbook of Clinical Neurology,111, 611–618.
8. Prasad, A. N., & Hoffmann, G. F. (2010). Early onset epilepsy and inherited metabolic disorders: diagnosis and management [J]. The Canadian Journal of Neurological Sciences,37(3), 350–358.
9. Vitiello, G., De Clemente, V., Della Casa, R., et al. (2012). Epilepsy in inherited metabolic disorders: A pediatric series. Minerva Pediatrica,64(5), 513–520.
10. Kaspar, H., Dettmer, K., Chan, Q., et al. (2009). Urinary amino acid analysis: A comparison of ITRAQ-LC-MS/MS, GC/MS, and amino acid analyzer. Journal of Chromatography B,8(20), 1838–1846.
11. Nakagawa, K., Kawana, S., Hasegawa, Y., et al. (2010). Simplified method for the chemical diagnosis of organic aciduria using GC/MS. Journal of Chromatography B,878(13), 942–948.
12. Campos, H. D. (2011). Tandem mass spectrometry as screening for inborn errors of metabolism. Revista Medica de Chile,139, 1356–1364.
13. Guevara-Campos, J., Gonzales-de-Guevara, L., & Medina-Atopo, M. (2003). Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia. Revue Neurologique,36, 735–737.
14. Mikati, M. A., Zalloua, P., Karam, P., et al. (2006). Novel mutation causing partial biotinidase deficiency in a Syrian boy with infantile spasms and retardation. Journal of Child Neurology,21, 978–981.
15. Ceglarek, U., Leichtle, A., Brilgel, M., et al. (2009). Challenges and developments in tandem mass spectrometry based clinical metabolomics. Molecular and Cellular Endocrinology,29(301), 266–271.
16. Song, Y. Z., Deng, M., Chen, F. P., et al. (2011). Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center. International Journal of Molecular Medicine,28(1), 33–40.