Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry
Keywords:
newborn, brain diseases, ketone bodies, hyperammonemia, tandem mass spectrometry
Abstract
Propionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase. Propionyl CoA is metabolized by propionyl-CoA carboxylase to methylmalonyl CoA. Propionic acidemia is a major cause of ketotic hyperglycinemia. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy, hypotonia, metabolic acidosis, ketosis and hyperammonemia. The patient presented herein was a full-term female newborn with encephalopathy in the first days of life. She presented hypoglycemia, metabolic acidosis with increased anion gap, ketosis, hyperammonemia, anemia, leukopenia and thrombocytopenia. The brain ultrasonography was normal. The tandem mass expectrometry done by Pediatrix was abnormal, with the acylcarnitine results consistent with an organic acidemia. The parents are consanguineus and have a history of abortus, miscarriage and neonatal death, characteristics suggestive of the presence of genetic defects.Downloads
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References
1. Fenton WA, Gravel RA, Rosenblatt DS. Disorders of propionate and methylmalonate metabolism. En: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited diseases. 8º Ed. New York: Mac Graw Hill Inc; 2001. p.2165-93.
2. Mandava P, Kent TA. Metabolic disease and stroke: propionic acidemia. [Consultado: enero 5 de 2006]. Disponible en: http://www.emedicine.com/neuro/topic577.htm
3. Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003;127:e325-8.
4. Seashore MR. The organic acidemias: an overview. Consultado: 3 de julio de 2007. Disponible en: http://www.geneclinics.org/servlet/access?db=geneclinics&site=gc&fcn=y&id=8888891&key=ZxsHOk4h-QlFE&filename=/profiles/oa-overview/index.html
5. Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, et al. High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet. 2000; 67:203-6.
6. Al Essa M, Rahbeeni Z, Jumaah S, Joshi S, Al Jishi E, Rashed MS, et al. Infectious complications of propionic acidemia in Saudia Arabia. Clin Genet. 1998;54:90-4.
7. Roth KS. Propionic acidemia (Propionyl CoA carboxylase deficiency). [Consultado: 24 de agosto de 2007]. Dispo-nible en: http://www.emedicine.com/ped/topic 1906.htm
8. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila). 2004;43:837-43.
9. Boveda MD, Couce ML, Lluch MD, Merinero B, Campistol J. Protocolo de diagnóstico y tratamiento de la acidemia propiónica, metilmalónica, isovalérica. An Esp Pediatr. 1997;89:9-15.
10.Ciani F, Pasquini E, Ciardetti A, Donati MA, Zammarchi E. Hyperglycinemia in clinical-laboratory practice. Pediatr Med Chir. 1997;19:109-12.
11.Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WI. Propionic acidemia: a clinical update. J Pediatr. 1981;99:835-46.
12.Nyhan WL, Bay C, Beyer EW, Mazi M. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol. 1999;56:1143-7.
13.Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Gen Metab. 2006;88:123-30.
14.North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, et al. Neonatal-onset propionic acidemia: Neurologic and developmental profiles and implications for management. J Pediatr. 1995;126 916-22.
15.Lücke T, Pérez-Cerdá C, Baumgartner M, Fowler B, Sander S, Sasse M, et al. Propionic acidemia: unusual course with late onset and fatal outcome. Metabolism. 2004;53:809-10.
16.Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Gen Metab. 2005;85:286-90.
17.Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003;110:1850-4.
18.Barrera LA, Echeverri OY, Almaciga CJ, Malaver LF. Fundamentos de las acidemias orgánicas y desórdenes del ciclo de la urea: diagnóstico y tratamiento. Parte I. Temas Pediátricos. 2006;23:1-37.
19.Barrera LA, Echeverri OY, Almaciga CJ, Malaver LF. Fundamentos de las acidemias orgánicas y desórdenes del ciclo de la urea: diagnóstico y tratamiento. Parte II. Temas Pediátricos. 2007;24:1-25.
20.Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, et al. Unusual presentations of propionic acidemia. Brain Dev. 1994;16:46-57.
21.Pediatrix Medical Group. Propionic academia. Consultado: 8 de agosto de 2007. Disponible en: http://www.pediatrix.com/body_screening_menu.cfm?id=1573
22.Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(Suppl.1):s4-8.
23.Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999;88:45-7.
24.Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez Pombo P, Ugarte M. Prenatal diagnosis of propionic acidemia. Prenat Diagn. 2004;24:962-4.
25.Matern D, Seydewitz HH, Lehnert W, Niederhoff H, Leititis JU, Brandis M. Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr. 1996;129:758-60.
26.Yannicelli S, Phyllis B, Acosta PB, Velásquez A, Bock HG, Marriage B, et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab. 2003;80:181-8.
27.Prasad C, Nurko S, Borovoy J, Korson MS. The importance of gut motility in the metabolic control of propionic acidemia. J Pediatr. 2004;144:532-5.
28. Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr. 2000;137:572-4.
29.Rousson R, Guibaud P. Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). J Inherit Metab Dis 1984;7(Suppl.1):10-2.
30. van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, et al. Clinical outcome and long term management of seventeen patients with propionic acidaemia. Eur J Pediatr. 1996;155:205-10.
31. Chemelli AP, Schocke M, Sperl W, Trieb T, Aichner F, Felber S. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging. 2000;11:596-600.
32.Cifuentes Y, Bermúdez M. Errores innatos del metabolismo en el período neonatal. En: Rojas E, Sarmiento F, editores. Pediatría. Diagnóstico y tratamiento. Segunda edición. Bogotá: Celsus; 2003. p.259.
33.Enns GM. Laboratorio en el diagnóstico de errores congénitos del metabolismo en el RN. NeoReviews. 2001;2:e192-200.
34.Ministerio de la Protección Social, OPS, OMS. Situación de salud en Colombia. Indicadores Básicos de Salud, 2006. Consultado: 10 de abril de 2007. Disponible en: http://www.minproteccionsocial.gov.co/VBeContent/NewsDetail.asp?ID=15895&IDCompany=3
35.Chiaratti de Oliveira A, dos Santos AM, Martins AM, DAlmeida V. Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause. Sao Paulo Med J. 2001;119:160-4.
36. Gu XF, Han LS, Gao XL, Yan YL, Ye J, Oiu WJ. A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China. Zhonghua Er Ke Za Zhi. 2004; 42:401-4.
2. Mandava P, Kent TA. Metabolic disease and stroke: propionic acidemia. [Consultado: enero 5 de 2006]. Disponible en: http://www.emedicine.com/neuro/topic577.htm
3. Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med. 2003;127:e325-8.
4. Seashore MR. The organic acidemias: an overview. Consultado: 3 de julio de 2007. Disponible en: http://www.geneclinics.org/servlet/access?db=geneclinics&site=gc&fcn=y&id=8888891&key=ZxsHOk4h-QlFE&filename=/profiles/oa-overview/index.html
5. Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, et al. High incidence of propionic acidemia in Greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase. Am J Hum Genet. 2000; 67:203-6.
6. Al Essa M, Rahbeeni Z, Jumaah S, Joshi S, Al Jishi E, Rashed MS, et al. Infectious complications of propionic acidemia in Saudia Arabia. Clin Genet. 1998;54:90-4.
7. Roth KS. Propionic acidemia (Propionyl CoA carboxylase deficiency). [Consultado: 24 de agosto de 2007]. Dispo-nible en: http://www.emedicine.com/ped/topic 1906.htm
8. Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila). 2004;43:837-43.
9. Boveda MD, Couce ML, Lluch MD, Merinero B, Campistol J. Protocolo de diagnóstico y tratamiento de la acidemia propiónica, metilmalónica, isovalérica. An Esp Pediatr. 1997;89:9-15.
10.Ciani F, Pasquini E, Ciardetti A, Donati MA, Zammarchi E. Hyperglycinemia in clinical-laboratory practice. Pediatr Med Chir. 1997;19:109-12.
11.Wolf B, Hsia YE, Sweetman L, Gravel R, Harris DJ, Nyhan WI. Propionic acidemia: a clinical update. J Pediatr. 1981;99:835-46.
12.Nyhan WL, Bay C, Beyer EW, Mazi M. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol. 1999;56:1143-7.
13.Filipowicz HR, Ernst SL, Ashurst CL, Pasquali M, Longo N. Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol Gen Metab. 2006;88:123-30.
14.North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, et al. Neonatal-onset propionic acidemia: Neurologic and developmental profiles and implications for management. J Pediatr. 1995;126 916-22.
15.Lücke T, Pérez-Cerdá C, Baumgartner M, Fowler B, Sander S, Sasse M, et al. Propionic acidemia: unusual course with late onset and fatal outcome. Metabolism. 2004;53:809-10.
16.Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Gen Metab. 2005;85:286-90.
17.Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003;110:1850-4.
18.Barrera LA, Echeverri OY, Almaciga CJ, Malaver LF. Fundamentos de las acidemias orgánicas y desórdenes del ciclo de la urea: diagnóstico y tratamiento. Parte I. Temas Pediátricos. 2006;23:1-37.
19.Barrera LA, Echeverri OY, Almaciga CJ, Malaver LF. Fundamentos de las acidemias orgánicas y desórdenes del ciclo de la urea: diagnóstico y tratamiento. Parte II. Temas Pediátricos. 2007;24:1-25.
20.Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, et al. Unusual presentations of propionic acidemia. Brain Dev. 1994;16:46-57.
21.Pediatrix Medical Group. Propionic academia. Consultado: 8 de agosto de 2007. Disponible en: http://www.pediatrix.com/body_screening_menu.cfm?id=1573
22.Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(Suppl.1):s4-8.
23.Chace DH, DiPerna JC, Naylor EW. Laboratory integration and utilization of tandem mass spectrometry in neonatal screening: a model for clinical mass spectrometry in the next millennium. Acta Paediatr Suppl. 1999;88:45-7.
24.Pérez-Cerdá C, Pérez B, Merinero B, Desviat LR, Rodríguez Pombo P, Ugarte M. Prenatal diagnosis of propionic acidemia. Prenat Diagn. 2004;24:962-4.
25.Matern D, Seydewitz HH, Lehnert W, Niederhoff H, Leititis JU, Brandis M. Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J Pediatr. 1996;129:758-60.
26.Yannicelli S, Phyllis B, Acosta PB, Velásquez A, Bock HG, Marriage B, et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab. 2003;80:181-8.
27.Prasad C, Nurko S, Borovoy J, Korson MS. The importance of gut motility in the metabolic control of propionic acidemia. J Pediatr. 2004;144:532-5.
28. Yorifuji T, Muroi J, Uematsu A, Nakahata T, Egawa H, Tanaka K. Living-related liver transplantation for neonatal-onset propionic acidemia. J Pediatr. 2000;137:572-4.
29.Rousson R, Guibaud P. Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). J Inherit Metab Dis 1984;7(Suppl.1):10-2.
30. van der Meer SB, Poggi F, Spada M, Bonnefont JP, Ogier H, Hubert P, et al. Clinical outcome and long term management of seventeen patients with propionic acidaemia. Eur J Pediatr. 1996;155:205-10.
31. Chemelli AP, Schocke M, Sperl W, Trieb T, Aichner F, Felber S. Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging. 2000;11:596-600.
32.Cifuentes Y, Bermúdez M. Errores innatos del metabolismo en el período neonatal. En: Rojas E, Sarmiento F, editores. Pediatría. Diagnóstico y tratamiento. Segunda edición. Bogotá: Celsus; 2003. p.259.
33.Enns GM. Laboratorio en el diagnóstico de errores congénitos del metabolismo en el RN. NeoReviews. 2001;2:e192-200.
34.Ministerio de la Protección Social, OPS, OMS. Situación de salud en Colombia. Indicadores Básicos de Salud, 2006. Consultado: 10 de abril de 2007. Disponible en: http://www.minproteccionsocial.gov.co/VBeContent/NewsDetail.asp?ID=15895&IDCompany=3
35.Chiaratti de Oliveira A, dos Santos AM, Martins AM, DAlmeida V. Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause. Sao Paulo Med J. 2001;119:160-4.
36. Gu XF, Han LS, Gao XL, Yan YL, Ye J, Oiu WJ. A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China. Zhonghua Er Ke Za Zhi. 2004; 42:401-4.
How to Cite
1.
Cifuentes Y, De la Hoz I, Bermúdez M, Arteaga C. Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry. biomedica [Internet]. 2008 Mar. 1 [cited 2024 May 17];28(1):10-7. Available from: https://revistabiomedica.org/index.php/biomedica/article/view/104
Published
2008-03-01
Issue
Section
Case presentation
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