Clinical Medicine Journal
Articles Information
Clinical Medicine Journal, Vol.1, No.3, Aug. 2015, Pub. Date: May 28, 2015
A Newborn with Propionic Acidemia Mimicking Urea Cycle Defect
Pages: 84-87 Views: 1409 Downloads: 695
Authors
[01] Sultan Kaba, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
[02] Murat Doğan, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
[03] Nihat Demir, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
[04] Keziban Bulan, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
[05] Oğuz Tuncer, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
[06] Nesrin Ceylan, Department of Pediatrics, School of Medicine Yuzuncu Yil University, Van, Turkey.
Abstract
Neonatal-onset propionic acidemia is the most common form of disorder. A 9-days old new born admitted to our hospital with lethargy suggested urea cycle defect at first look due to lack of metabolic acidosis, normal ketone and anion gap in laboratory evaluations. The case mimicking urea cycle defect, which was diagnosed as neonatal-onset propionic acidemia by specific tests, was presented because of its unusual manifestation.
Keywords
Propionic Academia, Mimicking, Urea Cycle Defect, Lack of Metabolic Acidosis
References
[01] Muro S, Pérez B, Desviat LR, Rodríguez-Pombo P, Pérez-Cerdá C, Clavero S, Ugarte M: Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. Mol Genet Metab. 2001, 74 (4):476-483.
[02] Al-Essa M, Bakheet S, Patay Z, Al-Shamsan L, Al-Sonbul A, Al-Watban J, Powe J, Ozand PT: 18-Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in propionic acidemia. Clinical and MRI correlations. Brain Dev. 1999, 21(5):312-317.
[03] Brismar J, Ozand PT: CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients. Brain Dev. 1994, 16 Suppl: 104-124.
[04] Yuan L: Propionic acidemia: one case report. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 1991, 13(2):141-143.
[05] Hsu WC, Lin SP, Huang FY, Wang PA, Hsiao KJ: Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy. Zhonghua Yi Xue Za Zhi (Taipei) 1990, 46(5):306-310.
[06] van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, et al.: Clinical outcome and long term management of 17 patients with propionic acidemia. Eur J Pediatr. 1996, 155:205-210.
[07] Delgado C, Macías C, de la Sierra García-Valdecasas M, Pérez M, del Portal LR, Jiménez LM: Subacute presentation of propionic acidemia. J Child Neurol. 2007, 22 (12):1405-1407.
[08] Lee TM, Addonizio LJ, Barshop BA, Chung WK: Unusual presentation of propionic acidaemia as isolated cardiomyopathy. J Inherit Metab Dis. 2009, 32 Suppl 1:97-101.
[09] Pagon RA, Bird TD, Dolan CR, et al. (editors): Gene Reviews NCBI Bookshelf, Aservice of the National Library of Medicine, National Institues of Health.
[10] Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, et al.: Neurologic considerations in propionic acidemia. Mol Genet Metab 2012, 105(1):10-15
[11] Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, et al.: Acute management of propionic acidemia. Mol Genet Metab 2012, 105(1):16-25.
[12] Lee TM, Addonizio LJ, Barshop BA, Chung WK: Unusual presentation of propionic acidaemia as isolated cardiomyopathy, J Inherit Metab Dis. 2009, 32 Suppl 1:97-101.
[13] Kim SN, Ryu KH, Lee EH, et al.: Molecular analysis of PCCB gene in Korean patients with propipnic acidemia. Mol Genet Meta 2001.
[14] Haberle J: The management of hyperammonaemia. Eur J Pediatr. 2011, 170:21-34.
[15] Akman I, Imamoğlu S, Demirkol M, Alpay H, Ozek E: Neonatal onset propionic acidemia without acidosis: a case report. Turk J Pediatr. 2002, 44 (4):339-342.
[16] Johnson JA, Le KL, Palacios E: Propionic acidemia: case report and review of neurologic sequelae. Pediatr Neurol. 2009, 40 (4):317-320.
[17] Maestri NE, Clissold D, Brusilow SW: Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr 1999, 134:268.
[18] Huang HP, Chu KL, Chien YH, et al.: Tandem mass neonatal screening in Taiwan: report from one center. J Formos Med Assoc 2006, 105:882.
[19] Summar ML, Dobbelaere D, Brusilow S, Lee B: Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes. Acta Paediatr 2008, 97:1420.
[20] Häberle J: Clinical practice: the management of hyperammonemia. Eur J Pediatr 2011, 170:21.
[21] Lilliu F: Treatment of organic acidurias and urea cycle disorders. J Matern Fetal Neonatal Med 2010, 23 Suppl 3:73.
[22] Walker V: Ammonia toxicity and its prevention in inherited defects of the urea cycle. Diabetes Obes Metab 2009, 11:823.
[23] Enns GM: Nitrogen sparing therapy revisited 2009. Mol Genet Metab 2010, 100 Suppl 1:65.
[24] Grunert SC, Mullerleile S, De Silva L, Barth M, Walter M, Walter K, et al.: Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis. 2013, 8:6-14.
[25] Levrat V, Forest I, Fouilhoux A, et al.: Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis 2008, 3:2.
[26] Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, et al.: Acute management of propionic acidemia. Mol Genet Metab. 2012, 105(1):16-25.
[27] Laemmle A, Balmer C, Doell C, Sass JO, Häberle J, Baumgartner MR: Propionic academia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur J Pediatr. 2014, 173(7):971-974.
600 ATLANTIC AVE, BOSTON,
MA 02210, USA
+001-6179630233
AIS is an academia-oriented and non-commercial institute aiming at providing users with a way to quickly and easily get the academic and scientific information.
Copyright © 2014 - 2017 American Institute of Science except certain content provided by third parties.