ECE2016 Eposter Presentations Developmental endocrinology (5 abstracts)
Evaluation of the series of adults with inborn metabolic diseases followed in endocrinology in Andalusia (Spain)
Montserrat Gonzalo Marin 1 , Inmaculada Gonzalez Molero 1 , Eva Venegas Moreno 2 , Elena Dios Fuentes 2 , Javier Blasco Alonso 3 , Maria Bueno Delgado 4 , Juliana Serrano Nieto 3 , Carlos Sierra Salinas 3 , Gabriel Olveira Fuster 1 , Francisco Tinahones Madueño 1 & Alfonso Soto Moreno 2
1Endocrinology and Nutrition, Regional University Hospital, Malaga, Spain; 2Endocrinology and Nutrition, Virgen del Rocío Hospital, Virgen Macarena Hospital, Seville, Spain; 3Service Paediatric Gastroenterology, Materno-Infantil Hospital, Malaga, Spain; 4Pediatrics, Virgen del Rocío Hospital, Seville, Spain.
Objectives: The transition from the paediatric age to the adult is a particularly vulnerable period in patients with metabolic congenital diseases (mcd). In andalusia two adults’ units exist (seville and malaga) for the follow-up of these patients. Our aim in this study was to evaluate the current series of attended patients.
Material and methods: We evaluated all patients transferred to the adult units since 2008. The clinical records were analyzed retrospectively.
Results: At present 149 adults with mcd (98 seville and 51 malaga) are evaluated. Aged (14–65) 71 women and 72 men. 92 phenylketonura (pku) (70 in seville and 22 in malaga). Benign hyperphenylalaninemia (1), fructosemia (4), galactosemia (4), glycogenosis: ia (2), ib (1), iii (2), trimethylaminuria (2), tyrosinemia type 1 (1), type 2 tyrosinemia (2), aciduria 3 oh 3 metilglutárica (2), propionic acidemia (pa) (1), methylmalonic acidemia (mma) (4), methylmalonic acidemia with homocystinuria (1), acidemia methylglutaconic (1) maple syrup urine disease (1) classical homocystinuria (deficit cbs): (4), metilen tetrahydrofolatoreductasa (mthfr) deficiency (3), alcaptonuria (2) otc deficiency (1), deficit succinyl coa (1), beta fatty acid oxidation deficiency (cpt1): (4), carnitine transporter deficiency (ctd) (4), methylcrotonylglycinuria: (4) xanthomatosis cerebrotendinous: (2) hiperamoniemic- hyperinsulinism syndrome (1), adrenoleukodystrophy (2) 9 were diagnosed in adults (1 alcaptonuria 1 adrenoleukodystrophy, 2 metylmalonic acidemia (mma): deficit cblc and cbla, 2 cerebrotendinous xanthomatosis, 3 deficit mthfr) 5 were diagnosed in adulthood as a result of neonatal screening for children (3 ctd and 2 methylcrotonylglycinuria) 17 pregnancies (12 pku, 2 homocystinuria, 2 pa,1 mma).
Conclusions: The majority pathology in our series is pku. The most patients come from pediatric follow-up the multidisciplinary, coordinated and individualized treatment is the guarantee for optimum care and quality of life in these patients. It is a challenge for endocrinology training and knowledge of these diseases.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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