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Title: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Authors: Kölker, Stefan
Valayannopoulos, Vassili
Burlina, Alberto B.
Sykut-Cegielska, Jolanta
Wijburg, Frits A.
Teles, Elisa Leão
Zeman, Jiri
Dionisi-Vici, Carlo
Barić, Ivo
Karall, Daniela
Arnoux, Jean Baptiste
Avram, Paula
Baumgartner, Matthias R.
Blasco-Alonso, Javier
Boy, S. P.Nikolas
Rasmussen, Marlene Bøgehus
Burgard, Peter
Chabrol, Brigitte
Chakrapani, Anupam
Chapman, Kimberly
Cortès i Saladelafont, Elisenda
Couce, Maria L.
de Meirleir, Linda
Dobbelaere, Dries
Furlan, Francesca
Gleich, Florian
González, Maria Julieta
Gradowska, Wanda
Grünewald, Stephanie
Honzik, Tomas
Hörster, Friederike
Ioannou, Hariklea
Jalan, Anil
Häberle, Johannes
Haege, Gisela
Langereis, Eveline
de Lonlay, Pascale
Martinelli, Diego
Matsumoto, Shirou
Mühlhausen, Chris
Murphy, Elaine
de Baulny, Hélène Ogier
Ortez, Carlos
Pedrón, Consuelo C.
Pintos-Morell, Guillem
Pena-Quintana, Luis 
Ramadža, Danijela Petković
Rodrigues, Esmeralda
Scholl-Bürgi, Sabine
Sokal, Etienne
Summar, Marshall L.
Thompson, Nicholas
Vara, Roshni
Pinera, Inmaculada Vives
Walter, John H.
Williams, Monique
Lund, Allan M.
Garcia Cazorla, Angeles
UNESCO Clasification: 32 Ciencias médicas
241108 Metabolismo humano
320102 Genética clínica
Keywords: Acidurias
Issue Date: 2015
Journal: Journal of Inherited Metabolic Disease 
Abstract: Background: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood. Aims: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages. Results: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval (PA), optic nerve atrophy [MMA, isovaleric aciduria (IVA)], pancytopenia (PA), and macrocephaly [glutaric aciduria type 1 (GA1)] were exclusively found in OAD patients, whereas hepatic involvement was more frequent in UCD patients, in particular in argininosuccinate lyase (ASL) deficiency. Chronic renal failure was often found in MMA, with highest frequency in mut(0) patients. Unexpectedly, chronic renal failure was also observed in adolescent and adult patients with GA1 and ASL deficiency. It had a similar frequency in patients with or without a movement disorder suggesting different pathophysiology. Thirteen patients (classic OAD: 3, UCD: 10) died during the study interval, ten of them during the initial metabolic crisis in the newborn period. Male patients with late-onset ornithine transcarbamylase deficiency were presumably overrepresented in the study population. Conclusions: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.
ISSN: 0141-8955
DOI: 10.1007/s10545-015-9840-x
Source: Journal of Inherited Metabolic Disease[ISSN 0141-8955],v. 38(6), p. 1059-1074 (Noviembre 2015)
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