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 6

  1. Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Tw...

    Authors: Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo and Annet M. Bosch
    Citation: Orphanet Journal of Rare Diseases 2023 18:135
    Content type: Research Published on:

  2. Primary carnitine deficiency is an inborn error of metabolism, which can lead to life-threating complications early in life. Low carnitine levels can be detected by newborn bloodspot screening (NBS). However, ...

    Authors: Lieke M. van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, Loek L. Crefcoeur, Gepke Visser, Mirjam Langeveld and Lidewij Henneman
    Citation: Orphanet Journal of Rare Diseases 2023 18:134
    Content type: Research Published on:

  3. The peroxisome is a ubiquitous single membrane-enclosed organelle with an important metabolic role. Peroxisomal disorders represent a class of medical conditions caused by deficiencies in peroxisome function a...

    Authors: Zhixing Zhu, Georgi Z. Genchev, Yanmin Wang, Wei Ji, Xiaofen Zhang, Hui Lu, Sira Sriswasdi and Guoli Tian
    Citation: Orphanet Journal of Rare Diseases 2023 18:102
    Content type: Research Published on:

  4. Barth syndrome (BTHS) is a rare genetic disease that is characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth abnormalities and often leads to death in childhood. Recently, elamipretide h...

    Authors: Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty and Cedric Manlhiot
    Citation: Orphanet Journal of Rare Diseases 2023 18:76
    Content type: Research Published on:

  5. Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectiv...

    Authors: Yongchao Mou, Ghata Nandi, Sukhada Mukte, Eric Chai, Zhenyu Chen, Jorgen E. Nielsen, Troels T. Nielsen, Chiara Criscuolo, Craig Blackstone, Matthew J. Fraidakis and Xue-Jun Li
    Citation: Orphanet Journal of Rare Diseases 2023 18:72
    Content type: Research Published on:

  6. GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tool...

    Authors: Costanza Varesio, Valentina De Giorgis, Pierangelo Veggiotti, Nardo Nardocci, Tiziana Granata, Francesca Ragona, Ludovica Pasca, Martina Maria Mensi, Renato Borgatti, Sara Olivotto, Roberto Previtali, Antonella Riva, Maria Margherita Mancardi, Pasquale Striano, Mara Cavallin, Renzo Guerrini…
    Citation: Orphanet Journal of Rare Diseases 2023 18:63
    Content type: Research Published on:

  7. Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of d...

    Authors: Paulo Victor Sgobbi Souza, Gliciane Afonso, Wladimir Bocca Vieira de Rezende Pinto, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Igor Braga Farias, Ana Carolina dos Santos Jorge, Roberta Ismael Lacerda Machado, Icaro França Navarro Pinto, Glenda Barbosa Barros, Helvia Bertoldo de Oliveira, Samia Rogatis Calil, Cibele Franz and Acary Souza Bulle Oliveira
    Citation: Orphanet Journal of Rare Diseases 2023 18:49
    Content type: Research Published on:

  8. This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency, and to investigate the mutation spectrum of HCLS def...

    Authors: Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu and Lianshu Han
    Citation: Orphanet Journal of Rare Diseases 2023 18:48
    Content type: Research Published on:

  9. Excess weight is a rising concern in patients with phenylketonuria (PKU). It is commonly observed in children and adolescents with PKU; but data on adults are inconsistent. This review aims to summarize availa...

    Authors: Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani and Christel Tran
    Citation: Orphanet Journal of Rare Diseases 2023 18:37
    Content type: Research Published on:

  10. Phenylalanine-free infant formula is an essential source of safe protein in a phenylalanine restricted diet, but its efficacy is rarely studied. We report a multicentre, open, longitudinal, prospective interve...

    Authors: Ozlem Yilmaz, Barbara Cochrane, Jo Wildgoose, Alex Pinto, Sharon Evans, Anne Daly, Catherine Ashmore and Anita MacDonald
    Citation: Orphanet Journal of Rare Diseases 2023 18:16
    Content type: Research Published on:

  11. Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. Treatment is available in the form of bile acid...

    Authors: Tiziano Pramparo, Robert D. Steiner, Steve Rodems and Celia Jenkinson
    Citation: Orphanet Journal of Rare Diseases 2023 18:13
    Content type: Research Published on:

  12. Alkaptonuria is a rare inherited disorder for which there was no disease-modifying treatment. In order to develop a successful approved therapy of AKU multiple barriers had to be overcome. These included activ...

    Authors: L. R. Ranganath and Nick Sireau
    Citation: Orphanet Journal of Rare Diseases 2023 18:1
    Content type: Review Published on:

  13. Phenylketonuria (PKU) is an inherited metabolic disease characterized by a defective conversion of phenylalanine (Phe) to tyrosine, potentially leading to Phe accumulation in the brain. Dietary restriction sin...

    Authors: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto and Alessandro P. Burlina
    Citation: Orphanet Journal of Rare Diseases 2022 17:443
    Content type: Position statement Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:44

  14. Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one...

    Authors: Gorka Fernández-Eulate, Gilles C. Martin, Pascal Dureau, Claude Speeg-Spatz, Anais Brassier, Perrine Gillard, Dominique Bremond-Gignac, Dominique Thouvenin, Cecile Pagan, Foudil Lamari and Yann Nadjar
    Citation: Orphanet Journal of Rare Diseases 2022 17:434
    Content type: Research Published on:

  15. Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransfer...

    Authors: Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh and Bita Geramizadeh
    Citation: Orphanet Journal of Rare Diseases 2022 17:424
    Content type: Review Published on:

  16. Nonketotic hyperglycinemia (NKH) is a severe neurometabolic disorder characterized by increased glycine levels. Current glycine reduction therapy uses high doses of sodium benzoate. The ketogenic diet (KD) may...

    Authors: Emily Shelkowitz, Russell P. Saneto, Walla Al-Hertani, Charlotte M. A. Lubout, Nicholas V. Stence, Mark S. Brown, Patrick Long, Diana Walleigh, Julie A. Nelson, Francisco E. Perez, Dennis W. W. Shaw, Emma J. Michl and Johan L. K. Van Hove
    Citation: Orphanet Journal of Rare Diseases 2022 17:423
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:54

  17. ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Aut...

    Authors: Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch and Carlos R. Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:421
    Content type: Research Published on:

  18. Betaine is an “alternate” methyl donor for homocysteine remethylation catalyzed by betaine homocysteine methyltransferase (BHMT), an enzyme mainly expressed in the liver and kidney. Betaine has been used for m...

    Authors: Apolline Imbard, Artemis Toumazi, Sophie Magréault, Nuria Garcia-Segarra, Dimitri Schlemmer, Florentia Kaguelidou, Isabelle Perronneau, Jérémie Haignere, Hélène Ogier de Baulny, Alice Kuster, François Feillet, Corinne Alberti, Sophie Guilmin-Crépon, Jean-François Benoist and Manuel Schiff
    Citation: Orphanet Journal of Rare Diseases 2022 17:417
    Content type: Research Published on:

  19. Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limitin...

    Authors: C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros and V. dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:398
    Content type: Research Published on:

  20. In children with phenylketonuria (PKU), transitioning protein substitutes at the appropriate developmental age is essential to help with their long-term acceptance and ease of administration. We assessed the p...

    Authors: Ozlem Yilmaz, Alex Pinto, Anne Daly, Catherine Ashmore, Sharon Evans, Nurcan Yabanci Ayhan and Anita MacDonald
    Citation: Orphanet Journal of Rare Diseases 2022 17:395
    Content type: Research Published on:

  21. Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARS...

    Authors: F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson and L. Campbell
    Citation: Orphanet Journal of Rare Diseases 2022 17:370
    Content type: Research Published on:

  22. Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficien...

    Authors: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien…
    Citation: Orphanet Journal of Rare Diseases 2022 17:331
    Content type: Research Published on:

  23. cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investig...

    Authors: Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li…
    Citation: Orphanet Journal of Rare Diseases 2022 17:330
    Content type: Research Published on:

  24. Parents of children with a rare progressive life-limiting illness are at risk for parental posttraumatic stress disorder (PTSD). Studies on the treatment of parental PTSD with eye movement and desensitization ...

    Authors: T. Conijn, C. De Roos, H. J. I. Vreugdenhil, E. M. Van Dijk-Lokkart, F. A. Wijburg and L. Haverman
    Citation: Orphanet Journal of Rare Diseases 2022 17:328
    Content type: Research Published on:

  25. Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the f...

    Authors: Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou and Xinran Dong
    Citation: Orphanet Journal of Rare Diseases 2022 17:326
    Content type: Research Published on:

  26. Congenital disorders of glycosylation (CDG) are a large family of rare genetic diseases for which therapies are virtually nonexistent. However, CDG therapeutic research has been expanding, thanks to the contin...

    Authors: Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:303
    Content type: Research Published on:

  27. Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency of the enzyme phenylalanine hydroxylase. If untreated, the complications of PKU lead to significant neucognitive and neuropsychiatr...

    Authors: A. L. S. Pessoa, A. M. Martins, E. M. Ribeiro, N. Specola, A. Chiesa, D. Vilela, E. Jurecki, D. Mesojedovas and I. V. D. Schwartz
    Citation: Orphanet Journal of Rare Diseases 2022 17:302
    Content type: Research Published on:

  28. Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. Clinical manifestations include skeletal dysmorphism, mental impairment, heari...

    Authors: Julia B. Hennermann, Eva M. Raebel, Francesca Donà, Marie-Line Jacquemont, Graziella Cefalo, Andrea Ballabeni and Dag Malm
    Citation: Orphanet Journal of Rare Diseases 2022 17:287
    Content type: Research Published on:

  29. Glycogen storage disease (GSD) type 0, VI and IX are inborn errors of metabolism involving hepatic glycogen synthesis and degradation. We performed a characterization of a large Italian cohort of 30 patients w...

    Authors: Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Orphanet Journal of Rare Diseases 2022 17:285
    Content type: Research Published on:

  30. The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replaceme...

    Authors: Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang and Cheryl Rockman-Greenberg
    Citation: Orphanet Journal of Rare Diseases 2022 17:277
    Content type: Research Published on:

  31. Dietary management is the most important and effective treatment for citrin deficiency, as well as a decisive factor in the clinical outcome of patients. However, the dietary management ability of caregivers o...

    Authors: Shuxian Zhang, Yun Du, Lingli Cai, Meixue Chen, Yuanzong Song, Lilan He, Ni Gong and Qingran Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:256
    Content type: Research Published on:

  32. Pain of musculoskeletal origin is very common in young patients affected by Mucopolysaccharidoses. This scoping review evaluates the evidence for assessment, pharmacological treatment and rehabilitation manage...

    Authors: R. Gnasso, B. Corrado, I. Iommazzo, F. Migliore, G. Magliulo, B. Giardulli and C. Ruosi
    Citation: Orphanet Journal of Rare Diseases 2022 17:255
    Content type: Review Published on:

  33. Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients w...

    Authors: Sinziana Stanescu, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta and Pilar Rodríguez-Pombo
    Citation: Orphanet Journal of Rare Diseases 2022 17:243
    Content type: Review Published on:

  34. Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme. Hypoglycemia and hepatomegaly are hallmarks of disease, but mus...

    Authors: Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici and Arianna Maiorana
    Citation: Orphanet Journal of Rare Diseases 2022 17:241
    Content type: Review Published on:

  35. Hereditary hemochromatosis (HH) is mainly caused by homozygous p.C282Y mutations in HFE in the Caucasians. We recently reported non-HFE mutations constitute the major cause of HH in Chinese. However, there is sti...

    Authors: Wei Zhang, Yanmeng Li, Anjian Xu, Qin Ouyang, Liyan Wu, Donghu Zhou, Lina Wu, Bei Zhang, Xinyan Zhao, Yu Wang, Xiaoming Wang, Weijia Duan, Qianyi Wang, Hong You, Jian Huang, Xiaojuan Ou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:216
    Content type: Research Published on:

  36. Patients with maple syrup urine disease (MSUD) experiencing metabolic decompensations have traditionally been treated with branched-chain amino acid (BCAA)-free mixture via oral or nasogastric administration r...

    Authors: Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao and Pascale de Lonlay
    Citation: Orphanet Journal of Rare Diseases 2022 17:202
    Content type: Research Published on:

  37. Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently b...

    Authors: Rebecca K. Halligan, R. Neil Dalton, Charles Turner, Katherine A. Lewis and Helen R. Mundy
    Citation: Orphanet Journal of Rare Diseases 2022 17:195
    Content type: Research Published on:

  38. Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeleta...

    Authors: Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2022 17:190
    Content type: Position statement Published on:

  39. Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE i...

    Authors: Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti and Pasi I. Nevalainen
    Citation: Orphanet Journal of Rare Diseases 2022 17:185
    Content type: Research Published on:

  40. Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threaten...

    Authors: Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo and Paolo Ventura
    Citation: Orphanet Journal of Rare Diseases 2022 17:160
    Content type: Review Published on:

  41. Classic Galactosemia is a rare, autosomal recessive disease in which galactose is not metabolized properly due to severe deficiency/absence of the galactose-1-phosphate uridylyltransferase (GALT) enzyme, conve...

    Authors: Jason A. Randall, Carolyn Sutter, Stella Wang, Evan Bailey, Lydia Raither, Riccardo Perfetti, Shoshana Shendelman and Claire Burbridge
    Citation: Orphanet Journal of Rare Diseases 2022 17:138
    Content type: Research Published on:

  42. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes ...

    Authors: Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou…
    Citation: Orphanet Journal of Rare Diseases 2022 17:136
    Content type: Research Published on:

  43. Propionic acidemia is a severe inherited metabolic disorder, caused by the deficiency of propionyl-CoA carboxylase which encoded by the PCCA and PCCB genes. The aim of the study was to investigate the clinical fe...

    Authors: Yi Liu, Zhehui Chen, Hui Dong, Yuan Ding, Ruxuan He, Lulu Kang, Dongxiao Li, Ming Shen, Ying Jin, Yao Zhang, Jinqing Song, Yaping Tian, Yongtong Cao, Desheng Liang and Yanling Yang
    Citation: Orphanet Journal of Rare Diseases 2022 17:135
    Content type: Research Published on:

  44. Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-b...

    Authors: Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:134
    Content type: Research Published on:

  45. Glycogen storage diseases (GSDs) are inherited glycogen metabolic disorders which have various subtypes. GSDs of type I, III, IV, VI, and IX show liver involvement and are considered as hepatic types of GSDs. ...

    Authors: Zahra Beyzaei, Alireza Shamsaeefar, Kurosh Kazemi, Saman Nikeghbalian, Ali Bahador, Masoud Dehghani, Seyed-Ali Malekhosseini and Bita Geramizadeh
    Citation: Orphanet Journal of Rare Diseases 2022 17:127
    Content type: Research Published on:

  46. Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes involved in glycosaminoglycans degradation. Relationship between mucopolysaccharidoses and related enzymes has b...

    Authors: Weijing Kong, Cheng Lu, Yingxue Ding and Yan Meng
    Citation: Orphanet Journal of Rare Diseases 2022 17:112
    Content type: Review Published on:

  47. Since the beginning of the COVID-19 pandemic, MetabERN has been monitoring the SARS-CoV-2 infection rates within its metabolic community. To gather data on the total number of cases and the severity of symptom...

    Authors: Laura Paneghetti, Cinzia Maria Bellettato, Annalisa Sechi, Karolina M. Stepien and Maurizio Scarpa
    Citation: Orphanet Journal of Rare Diseases 2022 17:109
    Content type: Research Published on:

  48. Porphyria cutanea tarda (PCT) is a skin disorder caused by a defect in the liver enzyme uroporphyrinogen decarboxylase and is associated with hepatitis C virus infection, high alcohol intake, smoking and iron ...

    Authors: Carl Michael Baravelli, Aasne Karine Aarsand, Sverre Sandberg and Mette Christophersen Tollånes
    Citation: Orphanet Journal of Rare Diseases 2022 17:72
    Content type: Research Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:180

  49. Current world experience regarding living donor liver transplantation (LDLT) in the treatment of propionic acidemia (PA) is limited, especially in terms of using obligate heterozygous carriers as donors. This ...

    Authors: Zhi-Gui Zeng, Guang-Peng Zhou, Lin Wei, Wei Qu, Ying Liu, Yu-Le Tan, Jun Wang, Li-Ying Sun and Zhi-Jun Zhu
    Citation: Orphanet Journal of Rare Diseases 2022 17:62
    Content type: Research Published on:

  50. Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infants and children, and carries a considerable risk of neurological damage and developmental delays if diagnosis and tr...

    Authors: Indraneel Banerjee, Julie Raskin, Jean-Baptiste Arnoux, Diva D. De Leon, Stuart A. Weinzimer, Mette Hammer, David M. Kendall and Paul S. Thornton
    Citation: Orphanet Journal of Rare Diseases 2022 17:61
    Content type: Review Published on:

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:205

Orphanet Journal of Rare Diseases

ISSN: 1750-1172