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Scientific letter
Successful pregnancy in a patient with multiple acyl-CoA dehydrogenase deficiency
Embarazo exitoso en una paciente con deficiencia de acil-CoA deshidrogenasa múltiple
Gonzalo Baonzaa, Sinziana Stanescub, Amaya Belanger-Quintanab, Mercedes Martínez-Pardob, Francisco Arrietaa,
Corresponding author
arri68@hotmail.com

Corresponding author.
a Servicio Endocrinología y Nutrición, Unidad de Errores Congénitos del Metabolismo (CSUR y MetabERN), Hospital Universitario Ramon y Cajal, CIBER de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Spain
b Servicio Pediatría, Unidad de Errores Congénitos del Metabolismo (CSUR y MetabERN), Hospital Universitario Ramon y Cajal, CIBER-ER, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Spain
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          "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Pedigree of the family with MADD disease&#46; The proband case is indicated with an arrow&#59; circle and square symbols represent women and men&#44; respectively&#59; shaded symbols indicate the affected members&#59; half-shaded indicate the carriers&#44; Line 1 below symbols corresponds to the individual identification&#44; line 2 indicates the mutation in the ETFDH gene&#44; if present&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Multiple acyl-CoA dehydrogenase deficiency &#40;MADD&#41;&#44; also known as glutaric aciduria type II&#44; is an autosomal recessively inherited metabolic disorder affecting the oxidation of fatty acids as well as the catabolism of branched-chain amino acids&#44; lysine and tryptophan&#46; MADD is caused by deficiency of either an electron-transfer flavoprotein &#40;ETF&#44; encoded by <span class="elsevierStyleItalic">ETFA</span> and <span class="elsevierStyleItalic">ETFB</span>&#41; or an electron-transfer flavoprotein dehydrogenase &#40;ETFDH&#44; encoded by <span class="elsevierStyleItalic">ETFDH</span>&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Patients with MADD have been classified into three groups&#58; &#40;1&#41; neonatal onset without anomalies&#44; &#40;2&#41; neonatal onset with anomalies and &#40;3&#41; mild or late-onset&#44; with a wide range of clinical expression between the groups&#46; Patients in the first group are often premature and present dysmorphic features with most of them dying in the first days of life&#46; Patients in the second group do not present congenital anomalies but usually develop severe cardiomyopathy and die during the first weeks of life&#46; The course and presentation in the third group&#44; the late-onset patients typically include episodes of metabolic acidosis&#44; non-ketotic hypoglycaemia and muscle weakness&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2&#44;3</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">The diagnosis of MADD consists in increased organic acid and acylglycine derivatives in the urine and medium- and long-chain acylcarnitines in the blood&#46; Genetic analysis confirms the diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">The treatment usually includes a high-carbohydrate&#44; low-fat&#44; low-protein diet associated with riboflavin and carnitine supplementation&#44; without periods of fasting&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">4&#44;5</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Case</span><p id="par0025" class="elsevierStylePara elsevierViewall">We present the case of a 31-year-old woman&#44; diagnosed with MADD &#40;mild or late-onset subtype&#41; at the age of 10 years in the context of a family study because one of her brothers was hospitalised in the ICU in relation to a coma caused by metabolic acidosis and hypoglycaemia&#46; Both of her parents were carriers of a mutation &#40;R175H&#41; in the ETFDH gene&#44; and the three siblings were affected by the same condition&#46; The patient is a product of non-consanguineous Spanish parents from the province of Ciudad Real&#46; The paternal grandparents were first cousins &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">At the time of diagnosis she presented with high levels of acylcarnitines in her blood&#46; Treatment with a diet restricted in fat and protein and associating supplementation of riboflavin and carnitine was started&#46; Since the diagnosis to the present time the patient has been in good general condition&#44; only suffering from occasional events of vomiting and muscle weakness &#40;never requiring hospitalisations for metabolic decompensations&#41;&#46;</p><p id="par0035" class="elsevierStylePara elsevierViewall">Several echocardiograms have been performed throughout her life because of an increased risk of cardiomyopathy&#44; which have all been normal&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">At the age of 30&#44; she became pregnant&#46; She was not blood-related to her partner&#46;</p><p id="par0045" class="elsevierStylePara elsevierViewall">A normocaloric diet with most of the calories coming from carbohydrates &#40;around 50&#47;60&#37;&#41;&#44; similar to the diet she was already doing&#44; was prescribed&#46; The diet was divided into three main meals and periodic snacks&#44; avoiding fasting periods of more than 4<span class="elsevierStyleHsp" style=""></span>h to prevent hypoglycaemia&#46; The treatment also included riboflavin &#40;300<span class="elsevierStyleHsp" style=""></span>mg&#47;day&#41; and <span class="elsevierStyleSmallCaps">l</span>-carnitine &#40;4<span class="elsevierStyleHsp" style=""></span>g&#47;day&#41;&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">Usual obstetric controls in the first&#44; second&#44; and third trimester were performed&#44; with an estimated foetal weight of 2&#46;4<span class="elsevierStyleHsp" style=""></span>kg &#40;16&#37; percentile&#41; in the third trimester&#46;</p><p id="par0055" class="elsevierStylePara elsevierViewall">At the 39th week an elective caesarean was conducted to reduce the intrapartum risks &#40;risk of metabolic decompensation and podalic presentation&#41;&#46; During the caesarean and the postoperative period&#44; she received intravenous carnitine &#40;2000<span class="elsevierStyleHsp" style=""></span>mg&#47;day&#41; and isotonic solution with 10&#37; dextrose to prevent hypoglycaemia&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">No complications during the procedure occurred and the patient remained clinically stable&#46; Levels of glucose&#44; creatine kinase&#44; transaminases&#44; lactic acid and ammonia were periodically measured and were within range limits&#46;</p><p id="par0065" class="elsevierStylePara elsevierViewall">The new-born was a phenotypically normal 2&#46;5<span class="elsevierStyleHsp" style=""></span>kg girl and had no problems during the first days of life&#46; Breast feeding was initiated without incidents&#46;</p><p id="par0070" class="elsevierStylePara elsevierViewall">As the only complication she presented dacryocystitis when she was at 40 days&#44; which required hospital admission and treatment with antibiotic therapy&#46; From this moment to date no other incidents have occurred&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Discussion</span><p id="par0075" class="elsevierStylePara elsevierViewall">Our patient&#44; just like her brothers&#44; had the mild or late-onset form of MADD&#44; and as pregnancy is a stressful event which may produce metabolic decompensation &#40;especially nausea and vomiting during the first trimester and labour itself&#41; a strict follow-up in pregnant women with MADD is essential&#46;</p><p id="par0080" class="elsevierStylePara elsevierViewall">To our knowledge there are only two cases in the literature of a successful pregnancy in a woman with this condition&#46; One is a 24-year-old woman with an atypical late-onset disease&#44; because she had congenital anomalies &#40;joint malformations&#41;&#44; although it is possible that these were unrelated&#46; This case presented several episodes of vomiting which required hospital admission and treatment with intravenous carnitine&#44; dextrose and riboflavin during pregnancy&#46; As with our patient an elective caesarean was performed&#44; with no incident during the delivery and a very similar preventive treatment as in our case&#46;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> The other case is a 19-year-old woman with late-onset MADD&#44; with no decompensations during the pregnancy and delivery though caesarean without complications with the preventive treatment&#46;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a></p><p id="par0085" class="elsevierStylePara elsevierViewall">In the absence of clinical guidelines for the care of pregnant woman with MADD this case reports entail important and helpful examples to guide the management of these patients&#46;</p></span></span>"
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Article information
ISSN: 25300180
Original language: English
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