PRENATAL DIAGNOSIS OF ORGANIC ACIDEMIAS
AT A TERTIARY CENTER
Tanacan A1,*, Gurbuz BB2, Aydin E1, Erden M1, Coskun T2, Beksac MS1
*Corresponding Author: Dr. Atakan Tanacan, Department of Obstetrics and Gynecology, Division of
Perinatology, Hacettepe University Hospital, Tıp Fakültesi Street, Sıhhiye, Ankara, Turkey. Tel: +90-
532-353-0892. Fax: +90-312-305-1910. E-mail: atakantanacan@yahoo.com
page: 29
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ACKNOWLEDGMENTS
We would like to extend our special thanks to all the
medical staff at the Division of Perinatology, Hacettepe
University Hospital, Ankara, Turkey for their efforts in the
management of high-risk pregnancies.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
REFERENCES
1. Chapman KA. Systemic organic acidemias: Identification,
diagnosis, management and long term complications.
J Pediatr Biochem. 2014; 4(4): 193-200.
2. Applegarth DA, Toone JR. Incidence of inborn errors
of metabolism in British Columbia, 1969-1996.
Pediatrics. 2000; 105(1): e10-e10.
3. Sanderson S, Green A, Preece M, Burton H. The incidence
of inherited metabolic disorders in the West
Midlands, UK. Arch Dis Child. 2006; 91(11): 896-899.
4. Wannmacher CM, Wajner M, Giugliani R, Giugliani
ER, Costa MG, Giugliani MCK. Detection of
metabolic disorders among high-risk patients. Rev
Bras Genet. 1982;5(1):187-194.
5. Vaidyanathan K, Narayanan MP, Vasudevan DM.
Organic acidurias: An updated review. Indian J Clin
Bio-chem. 2011; 26(4): 319-325.
6. Morris A, Leonard J. Early recognition of metabolic
decompensation. Arch Dis Child. 1997; 76(6): 555-556.
7. Dixon MA, Leonard JV. Intercurrent illness in inborn
errors of intermediary metabolism. Arch Dis Child.
1992; 67(11): 1387-1391.
8. Rashed MS, Rahbeeni Z, Ozand PT. Application of
electrospray tandem mass spectrometry to neonatal
screening. Semin Perinatol 1999; 23(2): 183-193.
9. Dionisi Vici C, Deodato F, Röschinger W, Rhead W,
Wilcken B. ‘Classical’organic acidurias, propionic
aciduria, methylmalonic aciduria and isovaleric aciduria:
Long term outcome and effects of expanded
newborn screening using tandem mass spectrometry.
J Inherited Metab Dis. 2006; 29(2-3): 383-389.
10. Wajner M, de Moura Coelho D, Ingrassia R, de Oliveira
AB, Busanello ENB, Raymond K, et al. Selective
screening for organic acidemias by urine organic
acid GC-MS analysis in Brazil: Fifteen-year experience.
Clin Chim Acta. 2009; 400(1-2): 77-81.
11. Ramsay J, Morton J, Norris M, Kanungo S. Organic
acid disorders. Ann Translational Med. 2018; 6(24):
472.
12. Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-
Frachon S, Guibaud L, Pagan C, et al. Antenatal
manifestations of inborn errors of metabolism:
biological diagnosis. J Inherited Metab Dis. 2016;
39(5): 611-624. 13. Sanger F, Nicklen S, Coulson AR. DNA sequencing
with chain-terminating inhibitors. Proc Nat Acad Sci
USA. 1977; 74(12): 5463-5467.
14. Morton DH, Strauss KA, Robinson DL, Puffen-berger
EG, Kelley RI. Diagnosis and treatment of maple
syrup disease: A study of 36 patients. Pediatrics.
2002; 109(6): 999-1008.
15. Schlune A, Riederer A, Mayatepek E, Ensenauer R.
Aspects of newborn screening in isovaleric acidemia.
Int J Neonat Screen. 2018; 4(1): 7-19.
16. Leonard J, Morris A. Inborn errors of metabolism
around time of birth. Lancet. 2000; 356(9229): 583-587.
17. Shibata N, Hasegawa Y, Yamada K, Kobayashi H,
Purevsuren J, Yang Y, et al. Diversity in the incidence
and spectrum of organic acidemias, fatty acid oxidation
disorders, and amino acid disorders in Asian
countries: Selective screening vs. expanded newborn
screening. Mol Genet Metab Rep. 2018; 16: 5-10.
18. Vargas CR, Ribas GS, da Silva JM, Sitta A, Deon M
Coelho DM, et al. Selective screening of fatty acids
oxidation defects and organic acidemias by liquid
chromatography/tandem mass spectrometry acylcarnitine
analysis in Brazilian patients. Arch Med Res.
2018; 49(3): 205-212.
19. Hori D, Hasegawa Y, Kimura M, Yang Y, Verma IC,
Yamaguchi S. Clinical onset and prognosis of Asian
children with organic acidemias, as detected by analysis
of urinary organic acids using GC/MS, instead of
mass screening. Brain Develop. 2005; 27(1): 39-45.
20. Koc I, Eryurt MA. The causal relationship between
consanguineous marriages and infant mortality in
Turkey. J Biosocial Sci. 2017; 49(4): 536-555.
21. Chen C, Han L, Guo F, Ye J, Peng Z, Qiu W, et al.
Noninvasive prenatal test of methylmalonic academia
cblC type through targeted sequencing of cell-free
DNA in maternal plasma. bioRxiv. 2018:425918.
22. Pérez Cerdá C, Pérez B, Merinero B, Desviat L, Pombo
PR, Ugarte M. Prenatal diagnosis of propionic
acidemia. Prenat Diagn. 2004; 24(12): 962-964.
23. Mujezinovic F, Alfirevic Z. Procedure-related complications
of amniocentesis and chorionic villous sampling:
A systematic review. Obstet Gynecol. 2007;
110(3): 687-694.
24. Alfirevic Z, Navaratnam K, Mujezinovic F. Amniocentesis
and chorionic villus sampling for prenatal
diagnosis. Cochrane Database Systematic Rev. 2017;
9. Art. No.: CD003252. doi: 10.1002/14651858.
CD003252.pub2.
25. Antsaklis AI, Papantoniou NE, Mesogitis SA, Koutra
PT, Vintzileos AM, Aravantinos DI. Cardiocen-tesis:
An alternative method of fetal blood sampling for the
prenatal diagnosis of hemoglobinopathies. Obstet
Gynecol. 1992; 79(4): 630-633.
26. Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu
G, Karall D, Chapman KA, et al. Proposed
guidelines for the diagnosis and management of
methyl-malonic and propionic acidemia. Orphanet
J Rare Dis. 2014; 9(1): 130-166.
27. Alberola TM, Bautista-Llácer R, Vendrell X, García-
Mengual E, Pardo M, Vila M, et al. Case report: Birth
of healthy twins after preimplantation genetic diagnosis
of propionic acidemia. J Assist Reprod Genet.
2011; 28(3): 211-216.
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