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1. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Author

Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja), Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), and Djordjevic, M. (Maja)

Abstract

Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs.

Published
2020
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2. Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

Author

Dimitrov, B. (Bianca), Molema, F. (Femke), Williams, M. (Monique), Schmiesing, J. (Jessica), Mühlhausen, C. (Chris), Baumgartner, M.R. (Matthias), Schumann, A. (Anke), Kölker, S. (Stefan), Dimitrov, B. (Bianca), Molema, F. (Femke), Williams, M. (Monique), Schmiesing, J. (Jessica), Mühlhausen, C. (Chris), Baumgartner, M.R. (Matthias), Schumann, A. (Anke), and Kölker, S. (Stefan)

Abstract

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic diseases. Increasing awareness, reliable diagnostic work-up, newborn screening programs for some OADs, optimized neonatal and intensive care, and the development of evidence-based recommendations have improved neonatal survival and short-term outcome of affected individuals. However, chronic progression of organ dysfunction in an aging patient population cannot be reliably prevented with traditional therapeutic measures. Evidence is increasing that disease progression might be best explained by mitochondrial dysfunction. Previous studies have demonstrated that some toxic metabolites target mitochondrial proteins inducing synergistic bioenergetic impairment. Although these potentially reversible mechanisms help to understand the development of acute metabolic decompensations during catabolic state, they currently cannot completely explain disease progression with age. Recent studies identified unbalanced autophagy as a novel mechanism in the renal pathology of methylmalonic aciduria, resulting in impaired quality control of organelles, mitochondrial aging and, subsequently, progressive organ dysfunction. In addition, the discovery of post-translational short-chain lysine acylation of histones and mitochondrial enzymes helps to understand how intracellular key metabolites modulate gene expression and enzyme function. While acylation is considered an important mechanism for metabolic adaptation, the chronic accumulation of potential substrates of short-chain lysine acylation in inherited metabolic diseases might exert the opposite effect, in the long run. Recently, changed glutarylation patterns of mitochondrial proteins have been demonstrated in glutaric aciduria type 1. These new insights might bridge the gap between natural history and pathophysiology in OADs, and their exploitation for the development of targeted therapies seems promising.

Published
2020
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3. Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias

Author

Heringer, J. (Jana), Valayannopoulos, V. (Vassili), Lund, A.M. (Allan), Wijburg, F.A. (Frits), Freisinger, P. (Peter), Barić, I. (Ivo), Baumgartner, M.R. (Matthias), Burgard, P. (Peter), Burlina, A.B. (Alberto), Chapman, K. (Kimberly), Cortès i Saladelafont, E. (Elisenda), Karall, D. (Daniela), Mühlhausen, C. (Chris), Riches, V. (Victoria), Schiff, M. (Manuel), Sykut-Cegielska, J. (Jolanta), Walter, J.H. (John), Zeman, J. (Jiri), Chabrol, B. (Brigitte), Kölker, S. (Stefan), Heringer, J. (Jana), Valayannopoulos, V. (Vassili), Lund, A.M. (Allan), Wijburg, F.A. (Frits), Freisinger, P. (Peter), Barić, I. (Ivo), Baumgartner, M.R. (Matthias), Burgard, P. (Peter), Burlina, A.B. (Alberto), Chapman, K. (Kimberly), Cortès i Saladelafont, E. (Elisenda), Karall, D. (Daniela), Mühlhausen, C. (Chris), Riches, V. (Victoria), Schiff, M. (Manuel), Sykut-Cegielska, J. (Jolanta), Walter, J.H. (John), Zeman, J. (Jiri), Chabrol, B. (Brigitte), and Kölker, S. (Stefan)

Abstract

Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.

Published
2017
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4. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks

Author

Hollak, C.E.M. (Carla), Biegstraaten, M. (Marieke), Baumgartner, M.R. (Matthias R.), Belmatoug, N. (Nadia), Bembi, B. (Bruno), Bosch, A.M. (Annet), Brouwers, M.C.G.J. (M. C G J), Dekker, H. (Hanka), Dobbelaere, D. (Dries), Engelen, M. (Marc), Groenendijk, M.C. (Marike C.), Lachmann, R.H. (Robin), Langendonk, J.G. (Janneke), Langeveld, M. (Mirjam), Linthorst, G. (Gabor), Morava, E. (Eva), Poll-The, B.T., Rahman, S. (Shamima), Rubio-Gozalbo, M.E. (Estela), Spiekerkoeter, U. (Ute), Treacy, E. (Eileen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes), Hagendijk, R. (Rob), Hollak, C.E.M. (Carla), Biegstraaten, M. (Marieke), Baumgartner, M.R. (Matthias R.), Belmatoug, N. (Nadia), Bembi, B. (Bruno), Bosch, A.M. (Annet), Brouwers, M.C.G.J. (M. C G J), Dekker, H. (Hanka), Dobbelaere, D. (Dries), Engelen, M. (Marc), Groenendijk, M.C. (Marike C.), Lachmann, R.H. (Robin), Langendonk, J.G. (Janneke), Langeveld, M. (Mirjam), Linthorst, G. (Gabor), Morava, E. (Eva), Poll-The, B.T., Rahman, S. (Shamima), Rubio-Gozalbo, M.E. (Estela), Spiekerkoeter, U. (Ute), Treacy, E. (Eileen), Wanders, R.J.A. (Ronald), Zschocke, J. (Johannes), and Hagendijk, R. (Rob)

Abstract

A call from the EU for the set-up of European Reference Networks (ERNs) is expected to be launched in the first quarter of 2016. ERNs are intended to improve the care for patients with low prevalent or rare diseases throughout the EU by, among other things, facilitating the pooling and exchange of experience and knowledge and the development of protocols and guidelines. In the past, for example where costly orphan drugs have been concerned, industry has played an important role in facilitating consensus meetings and publication of guidelines. The ERNs should provide a unique opportunity for healthcare professionals and patients to lead these activities in an independent way. However, currently costs for networking activities are not to be covered by EU funds and alternative sources of funding are being explored. There is growing concern that any involvement of the industry in the funding of ERNs and their core activities may create a risk of undue influence. To date, the European Commission has not been explicit in how industry will be engaged in ERNs. We believe that public funding and a conflict of interest policy are needed at the level of the ERNs, Centers of Expertise (CEs), healthcare professionals and patient organizations with the aim of maintaining scientific integrity and independence. Specific attention is needed where it concerns the development of clinical practice guidelines. A proposal for a conflict of interest policy is presented, which may support the development of a framework to facilitate collaboration, safeguard professional integrity and to establish and maintain public acceptability and trust among patients, their organizations and the general public.

Published
2016
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5. Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Author

Rüegger, C.M. (Corinne), Lindner, M. (Martin), Ballhausen, D. (Diana), Baumgartner, M.R. (Matthias), Beblo, S. (Skadi), Das, A., Gautschi, M. (Matthias), Glahn, E.M. (Esther), Grünert, S.C. (Sarah), Hennermann, J.B. (Julia), Hochuli, M. (Michel), Huemer, M. (Martina), Karall, D. (Daniela), Kölker, S. (Stefan), Lachmann, R.H. (Robin), Lotz-Havla, A. (Amelie), Möslinger, D. (Dorothea), Nuoffer, J.-M. (Jean-Marc), Plecko, B. (Barbara), Rutsch, W.R. (Wolfgang), Santer, R. (Rene), Spiekerkoeter, U. (Ute), Staufner, C. (Christian), Stricker, B.H.Ch. (Bruno), Wijburg, F.A. (Frits), Williams, M. (Martine), Burgard, P. (Peter), Häberle, J. (Johannes), Rüegger, C.M. (Corinne), Lindner, M. (Martin), Ballhausen, D. (Diana), Baumgartner, M.R. (Matthias), Beblo, S. (Skadi), Das, A., Gautschi, M. (Matthias), Glahn, E.M. (Esther), Grünert, S.C. (Sarah), Hennermann, J.B. (Julia), Hochuli, M. (Michel), Huemer, M. (Martina), Karall, D. (Daniela), Kölker, S. (Stefan), Lachmann, R.H. (Robin), Lotz-Havla, A. (Amelie), Möslinger, D. (Dorothea), Nuoffer, J.-M. (Jean-Marc), Plecko, B. (Barbara), Rutsch, W.R. (Wolfgang), Santer, R. (Rene), Spiekerkoeter, U. (Ute), Staufner, C. (Christian), Stricker, B.H.Ch. (Bruno), Wijburg, F.A. (Frits), Williams, M. (Martine), Burgard, P. (Peter), and Häberle, J. (Johannes)

Abstract

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase def

Published
2014
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6. Genetic basis of hyperlysinemia

Author

Houten, S.M. (Sander M.), Te Brinke, H. (Heleen), Denis, S. (Simone), Ruiter, J.P.N. (Jos), Knegt, A.C. (Alida), Klerk, J.B.C. (Johannes) de, Augoustides-Savvopoulou, P. (Persa), Häberle, J. (Johannes), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Zschocke, J. (Johannes), Sass, J.O. (Jörn Oliver), Poll-The, B.T., Wanders, R.J.A. (Ronald), Duran, M. (Marinus), Houten, S.M. (Sander M.), Te Brinke, H. (Heleen), Denis, S. (Simone), Ruiter, J.P.N. (Jos), Knegt, A.C. (Alida), Klerk, J.B.C. (Johannes) de, Augoustides-Savvopoulou, P. (Persa), Häberle, J. (Johannes), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Zschocke, J. (Johannes), Sass, J.O. (Jörn Oliver), Poll-The, B.T., Wanders, R.J.A. (Ronald), and Duran, M. (Marinus)

Abstract

Background: Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding aminoadipic semialdehyde synthase has been reported. We aimed to better define the genetic basis of hyperlysinemia. Methods. We collected the clinical, biochemical and molecular data in a cohort of 8 hyperlysinemia patients with distinct neurological features. Results: We found novel causal mutations in AASS in all affected individuals, including 4 missense mutations, 2 deletions and 1 duplication. In two patients originating from one family, the hyperlysinemia was caused by a contiguous gene deletion syndrome affecting AASS and PTPRZ1. Conclusions: Hyperlysinemia is caused by mutations in AASS. As hyperlysinemia is generally considered a benign metabolic variant, the more severe neurological disease course in two patients with a contiguous deletion syndrome may be explained by the additional loss of PTPRZ1. Our findings illustrate the importance of detailed biochemical and genetic studies in any hyperlysinemia patient.

Published
2013
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7. Erratum: Prediction of outcome in isolated methylmalonic acidurias: Combined use of clinical and biochemical parameters (J Inherit Metab Dis (2009) (DOI 10.1007/s10545-009-1189-6))

Author

Hörster, F. (Friederike), Garbade, S.F. (Sven), Zwickler, T., Aydin, H.I. (Halil Ibrahim), Bodamer, O.A. (Olaf), Burlina, A.B. (Alberto), Das, A., Klerk, J.B.C. (Johannes) de, Dionisi-Vici, C. (Carlo), Geb, S., Gökcay, G. (Gülbin), Guffon, N. (Nathalie), Maier, E.M., Morava, E. (Eva), Walter, J.H. (John), Schwahn, B. (Bernd), Wijburg, F.A. (Frits), Lindner, M. (Martin), Grünewald, S. (Sonja), Baumgartner, M.R. (Matthias), Kölker, S. (Stefan), Hörster, F. (Friederike), Garbade, S.F. (Sven), Zwickler, T., Aydin, H.I. (Halil Ibrahim), Bodamer, O.A. (Olaf), Burlina, A.B. (Alberto), Das, A., Klerk, J.B.C. (Johannes) de, Dionisi-Vici, C. (Carlo), Geb, S., Gökcay, G. (Gülbin), Guffon, N. (Nathalie), Maier, E.M., Morava, E. (Eva), Walter, J.H. (John), Schwahn, B. (Bernd), Wijburg, F.A. (Frits), Lindner, M. (Martin), Grünewald, S. (Sonja), Baumgartner, M.R. (Matthias), and Kölker, S. (Stefan)

Published
2009
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