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
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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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