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: 1

INTRODUCTION

Organic acidemias (OAs) are a group of rare hereditary disorders characterized by increased excretion of organic acids in urine [1]. Deficiencies of specific enzymes in the breakdown pathways of amino acids lead to elevated levels of organic acids in the organism, causing alterations in several systems, mostly the central nervous system [1]. The incidence of OAs ranges between 3.7-12.6/ 100,000 according to various studies [2,3]. On the other hand, a much higher frequency was reported in a study that consisted of a preselected high-risk group of patients [4]. The most common types of OAs are propionic acidemia (PA), methyl malonic acidemia (MMA), branched chain organic acidemia [which includes isovaleric aciduria (IVA)] glutaric acidemia Type I, and multiple carboxylase deficiency (MCD) [5]. Maple syrup urine disease (MSUD), which occurs due to elevated branched chain amino acids, is also regarded as a branched chain amino acidemia [5]. All OAs are autosomal recessively inherited disorders [5]. Generally, signs and symptoms of these disorders develop during the newborn period or early infancy. Following an initial period of well-being, patients experience a life-threatening episode of metabolic acidosis with increased anion gap. These episodes may be associated with significant morbidity and even mortality [6]. Diagnosis of OAs can be challenging in newborns as the presenting symptoms may be mistaken for other conditions such as neonatal sepsis [7]. Although parental consanguinity may arouse suspicion for the diagnosis of OAs, definitive diagnosis usually cannot be anticipated without index cases. Use of gas chromatograph-mass spectrometry (GC-MS) and tandem MS has facilitated the diagnosis of OAs in the past few decades [8]. Diagnosing OAs within the first 24-48 hours of life is critical as appropriate management protocols may prevent serious morbidity and even mortality [5]. Thus, neonatal screening programs have vital importance, especially in countries with higher rates for OAs [9,10]. Another important issue is providing suitable genetic counseling for couples with a history of OAs in their families, as prenatal diagnosis (PND) is available for most of them. Assessment of certain metabolites in the amniotic fluid, analysis of enzyme activities in amniocytes/chorionic villi and targeted mutation analysis may all be performed for PND of OAs [11,12]. Prenatal diagnosis is crucial as it may give parents the opportunity for termination of pregnancy in severe cases and may give the physicians enough time for referral of the patients to tertiary healthcare centers. The aim of this study was to share our experience in the PND of OAs in our clinic.



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