Skip to main content


Inherited metabolic diseases

The inherited metabolic diseases (IMD) section publishes original research (clinical, biochemical, and genetic), well-phenotyped case series, clinical trial outcome reports, and comprehensive reviews of rare inherited disorders of metabolism.

Submissions that increase our understanding or make new observations regarding IMD are particularly welcome. Detailed natural history studies of well-phenotyped case series, and publication of consensus statements on investigation and management of IMD, including collaborations between centres, are encouraged.

Page 1 of 3

  1. Content type: Review

    Patients with the metabolic disorder classical galactosemia suffer from long-term complications despite a galactose-restricted diet, including a below average intelligence level. The aim of the current review ...

    Authors: Merel E. Hermans, Mendy M. Welsink-Karssies, Annet M. Bosch, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:226

    Published on:

  2. Content type: Research

    Trimethylaminuria (TMAU) is a metabolic disorder characterized by the excessive excretion of the malodorous compound trimethylamine (TMA). The diagnosis of TMAU is challenging because this disorder is situated...

    Authors: Nadia Bouchemal, Lisa Ouss, Anaïs Brassier, Valérie Barbier, Stéphanie Gobin, Laurence Hubert, Pascale de Lonlay and Laurence Le Moyec

    Citation: Orphanet Journal of Rare Diseases 2019 14:222

    Published on:

  3. Content type: Research

    Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen

    Citation: Orphanet Journal of Rare Diseases 2019 14:217

    Published on:

  4. Content type: Research

    Patients with Phenylketonuria (PKU) are exposed to multiple cardiovascular risk factors, but the clinical significance of these abnormalities is yet unknown. The purpose of this study was to characterize the c...

    Authors: Aline Azabdaftari, Markus van der Giet, Mirjam Schuchardt, Julia B. Hennermann, Ursula Plöckinger and Uwe Querfeld

    Citation: Orphanet Journal of Rare Diseases 2019 14:213

    Published on:

  5. Content type: Research

    Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes. Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy. Type 2 disease res...

    Authors: Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A. Hughes and Elin Haf Davies

    Citation: Orphanet Journal of Rare Diseases 2019 14:212

    Published on:

  6. Content type: Research

    Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully unde...

    Authors: Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini and Carlo Dionisi-Vici

    Citation: Orphanet Journal of Rare Diseases 2019 14:208

    Published on:

  7. Content type: Research

    The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles o...

    Authors: Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer and Laura E. Laróvere

    Citation: Orphanet Journal of Rare Diseases 2019 14:203

    Published on:

  8. Content type: Research

    Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease caused by deficient tissue-non-specific isoenzyme of alkaline phosphatase activity that manifests as a broad range of signs/symptoms, includi...

    Authors: Eric T. Rush, Scott Moseley and Anna Petryk

    Citation: Orphanet Journal of Rare Diseases 2019 14:201

    Published on:

  9. Content type: Research

    Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizur...

    Authors: K. F. Trefz, A. C. Muntau, K. M. Kohlscheen, J. Altevers, C. Jacob, S. Braun, W. Greiner, A. Jha, M. Jain, I. Alvarez, P. Lane, C. Schröder and F. Rutsch

    Citation: Orphanet Journal of Rare Diseases 2019 14:181

    Published on:

  10. Content type: Position statement

    In 2009 the European Commission called for National action plans (NAP) to improve the care for persons with rare diseases. Germany set up a NAP in 2013 suggesting a three-tiered structure of co-operating cente...

    Authors: U. Plöckinger and A. Ziagaki

    Citation: Orphanet Journal of Rare Diseases 2019 14:158

    Published on:

  11. Content type: Research

    MetabERN is one of the 24 European Reference Networks created according to the European Union directive 2011/24/EU on patient’s rights in cross border healthcare. MetabERN associates 69 centres in 18 countries...

    Authors: Jean-Michel Heard, Cinzia Bellettato, Corine van Lingen and Maurizio Scarpa

    Citation: Orphanet Journal of Rare Diseases 2019 14:119

    Published on:

  12. Content type: Research

    The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment.

    Authors: Xianling Wang, Yanhui Yang, Xuying Li, Cunjiang Li and Chaodong Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:109

    Published on:

  13. Content type: Research

    Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    Authors: M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert…

    Citation: Orphanet Journal of Rare Diseases 2019 14:86

    Published on:

  14. Content type: Review

    Methylmalonic acidemia/aciduria (MMA) is a genetically heterogeneous group of inherited metabolic disorders biochemically characterized by the accumulation of methylmalonic acid. Isolated MMA is primarily caus...

    Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

    Citation: Orphanet Journal of Rare Diseases 2019 14:84

    Published on:

  15. Content type: Research

    Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment a...

    Authors: Ulrike Teufel, Peter Burgard, Jochen Meyburg, Martin Lindner, Johannes Poeschl, Peter Ruef, Georg F. Hoffmann and Stefan Kölker

    Citation: Orphanet Journal of Rare Diseases 2019 14:80

    Published on:

  16. Content type: Research

    Most patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental di...

    Authors: Tzu-Hung Chu, Yin-Hsiu Chien, Hsiang-Yu Lin, Hsuan-Chieh Liao, Huey-Jane Ho, Chih-Jou Lai, Chuan-Chi Chiang, Niang-Cheng Lin, Chia-Feng Yang, Wuh-Liang Hwu, Ni-Chung Lee, Shuan-Pei Lin, Chin-Su Liu, Rey-Heng Hu, Ming-Chih Ho and Dau-Ming Niu

    Citation: Orphanet Journal of Rare Diseases 2019 14:73

    Published on:

  17. Content type: Research

    The Registry of Adult and Paediatric Patients Treated with Cystadane® – Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety...

    Authors: Vassili Valayannopoulos, Manuel Schiff, Nathalie Guffon, Yann Nadjar, Angels García-Cazorla, Mercedes Martinez-Pardo Casanova, Aline Cano, Maria L. Couce, Jaime Dalmau, Luis Peña-Quintana, Vincent Rigalleau, Guy Touati, Luis Aldamiz-Echevarria, Pascal Cathebras, Didier Eyer, Dominique Brunet…

    Citation: Orphanet Journal of Rare Diseases 2019 14:66

    Published on:

  18. Content type: Research

    y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the ...

    Authors: Bianca Maria Rotoli, Amelia Barilli, Filippo Ingoglia, Rossana Visigalli, Massimiliano G. Bianchi, Francesca Ferrari, Diego Martinelli, Carlo Dionisi-Vici and Valeria Dall’Asta

    Citation: Orphanet Journal of Rare Diseases 2019 14:63

    Published on:

  19. Content type: Research

    Acute intermittent porphyria (AIP) is a low-penetrant genetic metabolic disease caused by a deficiency of hydroxymethylbilane synthase (HMBS) in the haem biosynthesis. Manifest AIP (MAIP) is considered when ca...

    Authors: María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer and Encarna Guillén-Navarro

    Citation: Orphanet Journal of Rare Diseases 2019 14:59

    Published on:

  20. Content type: Research

    Classical galactosemia (CG) is due to a severe deficiency of the galactose-1-phosphate uridyl-transferase (GALT), the main enzyme of galactose metabolism. Even early introduction of galactose-restricted diet f...

    Authors: Mirjam Korner, Sonja Kälin, Antoinette Zweifel-Zehnder, Niklaus Fankhauser, Jean-Marc Nuoffer and Matthias Gautschi

    Citation: Orphanet Journal of Rare Diseases 2019 14:56

    Published on:

  21. Content type: Research

    In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount an...

    Authors: A. Daly, S. Evans, S. Chahal, S. Santra, A. Pinto, R. Jackson, C. Gingell, J. Rocha, F. J. Van Spronsen and A. MacDonald

    Citation: Orphanet Journal of Rare Diseases 2019 14:44

    Published on:

  22. Content type: Review

    Propionic acidemia (PA, OMIM #606054) is a serious, life-threatening, inherited, metabolic disorder caused by the deficiency of the mitochondrial enzyme propionyl-coenzyme A (CoA) carboxylase (EC The...

    Authors: Tímea Almási, Lin T. Guey, Christine Lukacs, Kata Csetneki, Zoltán Vokó and Tamás Zelei

    Citation: Orphanet Journal of Rare Diseases 2019 14:40

    Published on:

  23. Content type: Research

    Barth syndrome (BTHS) is an X-linked disorder caused by defects in TAZ with key clinical features including cardiomyopathy, neutropenia and skeletal myopathy. In order to gain a better understanding of the range ...

    Authors: Brittany Hornby, Rebecca McClellan, Lucy Buckley, Kimberley Carson, Tiffany Gooding and Hilary J. Vernon

    Citation: Orphanet Journal of Rare Diseases 2019 14:37

    Published on:

  24. Content type: Position statement

    Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulator...

    Authors: Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro and Vivian Kessler

    Citation: Orphanet Journal of Rare Diseases 2019 14:36

    Published on:

  25. Content type: Review

    MNGIE is a rare and fatal disease in which absence of the enzyme thymidine phosphorylase induces systemic accumulation of thymidine and deoxyuridine and secondary mitochondrial DNA alterations. Gastrointestina...

    Authors: Rana Yadak, Marjolein Breur and Marianna Bugiani

    Citation: Orphanet Journal of Rare Diseases 2019 14:33

    Published on:

  26. Content type: Research

    Over 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only. For future clinical trials quantitative data on disease progression r...

    Authors: Irene C. Huffnagel, Marcel G. W. Dijkgraaf, Georges E. Janssens, Michel van Weeghel, Björn M. van Geel, Bwee Tien Poll-The, Stephan Kemp and Marc Engelen

    Citation: Orphanet Journal of Rare Diseases 2019 14:30

    Published on:

  27. Content type: Research

    Newborn screening programs are essential preventative public health initiatives but are not widely available in low-resource settings. The objective of this study was to describe the frequency and nature of sc...

    Authors: Malia S. Q. Murphy, Pranesh Chakraborty, Jesmin Pervin, Anisur Rahman, Lindsay A. Wilson, Monica Lamoureux, Kathryn Denize, Matthew Henderson, Steve Hawken, Beth K. Potter, Julian Little and Kumanan Wilson

    Citation: Orphanet Journal of Rare Diseases 2019 14:25

    Published on:

  28. Content type: Research

    Phenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of tr...

    Authors: Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet and Amy Pender

    Citation: Orphanet Journal of Rare Diseases 2019 14:7

    Published on:

  29. Content type: Letter to the Editor

    Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we ...

    Authors: Rai-Hseng Hsu, Yin-Hsiu Chien, Wuh-Liang Hwu, I-Fan Chang, Hui-Chen Ho, Shi-Ping Chou, Tzu-Ming Huang and Ni-Chung Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:6

    Published on:

  30. Content type: Review

    The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied b...

    Authors: Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew and Nicola Longo

    Citation: Orphanet Journal of Rare Diseases 2018 13:219

    Published on:

  31. Content type: Review

    Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, h...

    Authors: Carlota Pascoal, Sandra Brasil, Rita Francisco, Dorinda Marques-da-Silva, Agnes Rafalko, Jaak Jaeken, Paula A. Videira, Luísa Barros and Vanessa dos Reis Ferreira

    Citation: Orphanet Journal of Rare Diseases 2018 13:215

    Published on:

  32. Content type: Research

    Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.

    Authors: Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau…

    Citation: Orphanet Journal of Rare Diseases 2018 13:212

    Published on:

  33. Content type: Research

    People with Phenylketonuria (PKU) who respond to tetrahydrobiopterin (BH4) often decrease dependence on medical food (MF) following increased phenylalanine (phe) tolerance. Responders to BH4 may experience a r...

    Authors: Kristen D Brantley, Teresa D Douglas and Rani H Singh

    Citation: Orphanet Journal of Rare Diseases 2018 13:192

    Published on:

  34. Content type: Research

    Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the ...

    Authors: María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch and Jaume Campistol

    Citation: Orphanet Journal of Rare Diseases 2018 13:188

    Published on:

  35. Content type: Research

    A decision tree model was built to estimate the economic impact of introducing screening for X-linked adrenoleukodystrophy (X-ALD) into an existing tandem mass spectrometry based newborn screening programme. T...

    Authors: Alice Bessey, James B Chilcott, Joanna Leaviss and Anthea Sutton

    Citation: Orphanet Journal of Rare Diseases 2018 13:179

    Published on:

  36. Content type: Research

    Urea cycle disorders (UCDs) are inherited metabolic disorders that present with hyperammonemia, and cause significant mortality and morbidity in infants and children. These disorders are not well reported in t...

    Authors: Sunita Bijarnia-Mahay, Johannes Häberle, Anil B. Jalan, Ratna Dua Puri, Sudha Kohli, Ketki Kudalkar, Véronique Rüfenacht, Deepti Gupta, Deepshikha Maurya, Jyotsna Verma, Yosuke Shigematsu, Seiji Yamaguchi, Renu Saxena and Ishwar C. Verma

    Citation: Orphanet Journal of Rare Diseases 2018 13:174

    Published on:

  37. Content type: Position statement

    Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone. Accordingly, approval of sa...

    Authors: Ania C. Muntau, Marcel du Moulin and Francois Feillet

    Citation: Orphanet Journal of Rare Diseases 2018 13:173

    Published on:

  38. Content type: Letter to the Editor

    Fabry disease (FD) is a rare X-linked disorder caused by a deficiency of lysosomal α-galactosidase A activity. Treatment with recombinant enzyme replacement therapy is available since 2001 and the effects of a...

    Authors: Malte Lenders, Boris Schmitz, Stefan-Martin Brand and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2018 13:171

    Published on:

  39. Content type: Research

    Classical Galactosaemia (CG) (OMIM #230400) is a rare inborn error of galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). Long-term complications persist i...

    Authors: Hugh-Owen Colhoun, Estela M. Rubio Gozalbo, Annet M. Bosch, Ina Knerr, Charlotte Dawson, Jennifer Brady, Marie Galligan, Karolina Stepien, Roisin O’Flaherty, C. Catherine Moss, P. Peter Barker, Maria Fitzgibbon, Peter P. Doran and Eileen P. Treacy

    Citation: Orphanet Journal of Rare Diseases 2018 13:164

    Published on:

  40. Content type: Review

    Even though early dietary management of phenylketonuria (PKU) successfully prevents severe neurological impairments, deficits in cognitive functioning are still observed. These deficits are believed to be the ...

    Authors: Denise Leonne Hofman, Claire Louise Champ, Clare Louise Lawton, Mick Henderson and Louise Dye

    Citation: Orphanet Journal of Rare Diseases 2018 13:150

    Published on:

  41. Content type: Review

    Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated...

    Authors: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen…

    Citation: Orphanet Journal of Rare Diseases 2018 13:149

    Published on:

  42. Content type: Research

    Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with the same genotype. With current biomarkers, it is not possible t...

    Authors: Michel van Weeghel, Lindsey Welling, Eileen P. Treacy, Ronald J. A. Wanders, Sacha Ferdinandusse and Annet M. Bosch

    Citation: Orphanet Journal of Rare Diseases 2018 13:146

    Published on:

  43. Content type: Research

    Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical trials and inclusion criteria are currently mainly ba...

    Authors: Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp and Frances M. Platt

    Citation: Orphanet Journal of Rare Diseases 2018 13:143

    Published on:

  44. Content type: Research

    Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, ...

    Authors: Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal and Raja Padidela

    Citation: Orphanet Journal of Rare Diseases 2018 13:142

    Published on:

  45. Content type: Review

    The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the train...

    Authors: Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz and Luis A. Barrera

    Citation: Orphanet Journal of Rare Diseases 2018 13:141

    Published on:

  46. Content type: Research

    Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we...

    Authors: Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke and Parastoo Rostami

    Citation: Orphanet Journal of Rare Diseases 2018 13:130

    Published on:

  47. Content type: Research

    Cellular cobalamin defects are a locus and allelic heterogeneous disorder. The gold standard for coming to genetic diagnoses of cobalamin defects has for some time been gene-by-gene Sanger sequencing of indivi...

    Authors: Sandra Brasil, Fátima Leal, Ana Vega, Rosa Navarrete, María Jesús Ecay, Lourdes R. Desviat, Casandra Riera, Natàlia Padilla, Xavier de la Cruz, Mari Luz Couce, Elena Martin-Hernández, Ana Morais, Consuelo Pedrón, Luis Peña-Quintana, Miriam Rigoldi, Norma Specola…

    Citation: Orphanet Journal of Rare Diseases 2018 13:125

    Published on:

  48. Content type: Research

    Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality. Outcome...

    Authors: Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann and Esther M. Maier

    Citation: Orphanet Journal of Rare Diseases 2018 13:122

    Published on:

  49. Content type: Research

    Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study ...

    Authors: Jessica I. Hoell, Jens Warfsmann, Felix Distelmaier, Arndt Borkhardt, Gisela Janßen and Michaela Kuhlen

    Citation: Orphanet Journal of Rare Diseases 2018 13:112

    Published on:

  50. Content type: Research

    In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known a...

    Authors: María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos and Rosaura Leis

    Citation: Orphanet Journal of Rare Diseases 2018 13:103

    Published on: