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Title: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Authors: Kölker, Stefan
Cazorla, Angeles Garcia
Valayannopoulos, Vassili
Lund, Allan M.
Burlina, Alberto B.
Sykut-Cegielska, Jolanta
Wijburg, Frits A.
Teles, Elisa Leão
Zeman, Jiri
Dionisi-Vici, Carlo
Barić, Ivo
Karall, Daniela
Augoustides-Savvopoulou, Persephone
Aksglaede, Lise
Arnoux, Jean Baptiste
Avram, Paula
Baumgartner, Matthias R.
Blasco-Alonso, Javier
Chabrol, Brigitte
Chakrapani, Anupam
Chapman, Kimberly
i Saladelafont, Elisenda Cortès
Couce, Maria L.
de Meirleir, Linda
Dobbelaere, Dries
Dvorakova, Veronika
Furlan, Francesca
Gleich, Florian
Gradowska, Wanda
Grünewald, Stephanie
Jalan, Anil
Häberle, Johannes
Haege, Gisela
Lachmann, Robin
Laemmle, Alexander
Langereis, Eveline
de Lonlay, Pascale
Martinelli, Diego
Matsumoto, Shirou
Mühlhausen, Chris
de Baulny, Hélène Ogier
Ortez, Carlos
Peña-Quintana, Luis 
Ramadža, Danijela Petković
Rodrigues, Esmeralda
Scholl-Bürgi, Sabine
Sokal, Etienne
Staufner, Christian
Summar, Marshall L.
Thompson, Nicholas
Vara, Roshni
Pinera, Inmaculada Vives
Walter, John H.
Williams, Monique
Burgard, Peter
UNESCO Clasification: 32 Ciencias médicas
320110 Pediatría
241108 Metabolismo humano
Keywords: Blood-Brain-Barrier
Methylmalonic Aciduria
Propionic Aciduria
Head Circumference, et al
Issue Date: 2015
Journal: Journal of Inherited Metabolic Disease 
Abstract: Background The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.Aims/methods To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.Results We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases. Overall, 548 patients (69 %) were symptomatic. The majority of them (n = 463) presented with acute metabolic crisis during (n = 220) or after the newborn period (n = 243) frequently demonstrating impaired consciousness, vomiting and/or muscular hypotonia. Neonatal onset of symptoms was most frequent in argininosuccinic synthetase and lyase deficiency and carbamylphosphate 1 synthetase deficiency, unexpectedly low in male OTC deficiency, and least frequently in GA1 and female OTC deficiency. For patients with MMA, propionic aciduria (PA) and OTC deficiency (male and female), hyperammonemia was more severe in metabolic crises during than after the newborn period, whereas metabolic acidosis tended to be more severe in MMA and PA patients with late onset of symptoms. Symptomatic patients without metabolic crises (n = 94) often presented with a movement disorder, mental retardation, epilepsy and psychiatric disorders (the latter in UCD only).Conclusions The initial presentation varies widely in OAD and UCD patients. This is a challenge for rapid diagnosis and early start of treatment. Patients with a sepsis-like neonatal crisis and those with late-onset of symptoms are both at risk of delayed or missed diagnosis.
ISSN: 0141-8955
DOI: 10.1007/s10545-015-9839-3
Source: Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38, p. 1041-1057 8Abril 2015)
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