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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.

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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
  15. 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
  16. 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

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

  17. 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
  18. 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

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

  19. Reproductive planning is an emerging concern for women with inherited metabolic disease (IMD). Anticipatory guidance on contraception is necessary to prevent unintended pregnancies in this population. Few reso...

    Authors: Jessica I. Gold, Nina B. Gold, Diva D. DeLeon and Rebecca Ganetzky
    Citation: Orphanet Journal of Rare Diseases 2022 17:41
  20. Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomoc...

    Authors: Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta and Marco Spada
    Citation: Orphanet Journal of Rare Diseases 2022 17:33
  21. In recent years, much progress has been made in understanding the mechanisms of bone growth and development over a lifespan, including the crosstalk between muscle and bone, to achieve optimal structure and fu...

    Authors: Francis H. Glorieux, Lynda F. Bonewald, Nicholas C. Harvey and Marjolein C. H. van der Meulen
    Citation: Orphanet Journal of Rare Diseases 2022 17:30
  22. Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capaci...

    Authors: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat and David J. Tomlinson
    Citation: Orphanet Journal of Rare Diseases 2022 17:28
  23. Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...

    Authors: Florin Bösch, Nina A. Zeltner, Matthias R. Baumgartner, Martina Huemer and Markus A. Landolt
    Citation: Orphanet Journal of Rare Diseases 2022 17:26
  24. Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks vi...

    Authors: Amanda Mortensen, Eva M. Raebel and Samantha Wiseman
    Citation: Orphanet Journal of Rare Diseases 2022 17:19
  25. Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by ...

    Authors: Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds and Tarekegn Geberhiwot
    Citation: Orphanet Journal of Rare Diseases 2022 17:6
  26. Recently published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients. This study aimed to...

    Authors: George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss and Gisela Wilcox
    Citation: Orphanet Journal of Rare Diseases 2021 16:520
  27. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited...

    Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang
    Citation: Orphanet Journal of Rare Diseases 2021 16:503

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:21

  28. Insufficient metabolic control during pregnancy of mothers with phenylketonuria (PKU) leads to maternal PKU syndrome, a severe embryo-/fetopathy. Since maintaining or reintroducing the strict phenylalanine (Ph...

    Authors: Carmen Rohde, Alena Gerlinde Thiele, Christoph Baerwald, Rudolf Georg Ascherl, Dinah Lier, Ulrike Och, Christina Heller, Alexandra Jung, Kathrin Schönherr, Monika Joerg-Streller, Simone Luttat, Sabine Matzgen, Tina Winkler, Stefanie Rosenbaum-Fabian, Oxana Joos and Skadi Beblo
    Citation: Orphanet Journal of Rare Diseases 2021 16:477
  29. Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene (PAH), the enzyme catalyzing the conversion of phenylalanine to tyrosine. PAH impairment cau...

    Authors: Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli and Vincenzo Leuzzi
    Citation: Orphanet Journal of Rare Diseases 2021 16:476
  30. Children with Phenylketonuria (PKU) need a special diet to avoid a variety of physical and psychological complications. The aim of this study was to compare and assess the effects of two interventions on and l...

    Authors: Reza Zamani, Akram Karimi-Shahanjarini, Leili Tapak and Babak Moeini
    Citation: Orphanet Journal of Rare Diseases 2021 16:475
  31. Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, ...

    Authors: Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis and Kaustuv Bhattacharya
    Citation: Orphanet Journal of Rare Diseases 2021 16:465
  32. Propionic acidemia (PA) and methylmalonic acidemia (MMA) are rare, autosomal recessive inborn errors of metabolism that require life-long medical treatment. The trial aimed to evaluate the effectiveness of the...

    Authors: Majid Alfadhel, Marwan Nashabat, Mohammed Saleh, Mohammed Elamin, Ahmed Alfares, Ali Al Othaim, Muhammad Umair, Hind Ahmed, Faroug Ababneh, Fuad Al Mutairi, Wafaa Eyaid, Abdulrahman Alswaid, Lina Alohali, Eissa Faqeih, Mohammed Almannai, Majed Aljeraisy…
    Citation: Orphanet Journal of Rare Diseases 2021 16:422
  33. Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ5-C27-steroid oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal of this study was to obtain detailed information on the co...

    Authors: Jing Zhao, Kenneth D. R. Setchell, Ying Gong, Yinghua Sun, Ping Zhang, James E. Heubi, Lingjuan Fang, Yi Lu, Xinbao Xie, Jingyu Gong and Jian-She Wang
    Citation: Orphanet Journal of Rare Diseases 2021 16:417
  34. Isobutyryl-CoA dehydrogenase deficiency (IBDD) is a rare autosomal recessive metabolic disorder resulting from variants in ACAD8, and is poorly understood, as only dozens of cases have been reported previously. B...

    Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong
    Citation: Orphanet Journal of Rare Diseases 2021 16:392

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:505

  35. Zellweger spectrum disorders (ZSDs) are a rare, heterogenous group of autosomal recessively inherited disorders characterized by reduced peroxisomes numbers, impaired peroxisomal formation, and/or defective pe...

    Authors: Janaina Nogueira Anderson, Zineb Ammous, Yasemen Eroglu, Erick Hernandez, James Heubi, Ryan Himes and Sirish Palle
    Citation: Orphanet Journal of Rare Diseases 2021 16:388
  36. Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with ...

    Authors: Laura D’Erasmo, Antonio Gallo, Angelo Baldassare Cefalù, Alessia Di Costanzo, Samir Saheb, Antonina Giammanco, Maurizio Averna, Alessio Buonaiuto, Gabriella Iannuzzo, Giuliana Fortunato, Arturo Puja, Tiziana Montalcini, Chiara Pavanello, Laura Calabresi, Giovanni Battista Vigna, Marco Bucci…
    Citation: Orphanet Journal of Rare Diseases 2021 16:381
  37. Glycogen storage disease type I (GSD I) is a rare autosomal recessive disorder of carbohydate metabolism characterized by recurrent hypoglycaemia and hepatomegaly. Management of GSD I is demanding and comprise...

    Authors: Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sarah C. Grünert
    Citation: Orphanet Journal of Rare Diseases 2021 16:371
  38. In classical phenylketonuria (PKU) phenylalanine (Phe) accumulates due to functional impairment of the enzyme phenylalanine hydroxylase caused by pathogenic variants in the PAH gene. PKU treatment prevents severe...

    Authors: Marion Herle, Michaela Brunner-Krainz, Daniela Karall, Bernadette Goeschl, Dorothea Möslinger, Joachim Zobel, Barbara Plecko, Sabine Scholl-Bürgi, Johannes Spenger, Saskia B. Wortmann and Martina Huemer
    Citation: Orphanet Journal of Rare Diseases 2021 16:367
  39. In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG. Ou...

    Authors: Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert and Thorsten Marquardt
    Citation: Orphanet Journal of Rare Diseases 2021 16:359
  40. Cerebrotendinous xanthomatosis (CTX) is a rare, chronic, progressive, neurodegenerative disorder requiring life-long care. Patients with CTX often experience a diagnostic delay. Although early diagnosis and tr...

    Authors: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik-Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zubarioglu, Fanny Mochel and Antonio Federico
    Citation: Orphanet Journal of Rare Diseases 2021 16:353
  41. Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalit...

    Authors: Bruce H. R. Wolffenbuttel, M. Rebecca Heiner-Fokkema and Francjan J. van Spronsen
    Citation: Orphanet Journal of Rare Diseases 2021 16:343
  42. Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (N...

    Authors: Yiming Lin, Wenjun Wang, Chunmei Lin, Zhenzhu Zheng, Qingliu Fu, Weilin Peng and Dongmei Chen
    Citation: Orphanet Journal of Rare Diseases 2021 16:339
  43. Many surveys have been performed over the years to assess the medical and social requirements of patients with a rare disease, but no studies have focused specifically on patients in Europe or with an inherite...

    Authors: Sylvia Sestini, Laura Paneghetti, Christina Lampe, Gianni Betti, Simon Bond, Cinzia Maria Bellettato and Scarpa Maurizio
    Citation: Orphanet Journal of Rare Diseases 2021 16:336
  44. To evaluate the clinical efficacy of haploidentical haematopoietic stem cell transplantation (haplo-HSCT) for the treatment of malignant infantile osteopetrosis (MIOP) and intermediate osteopetrosis.

    Authors: Guanghua Zhu, Ang Wei, Bin Wang, Jun Yang, Yan Yan, Kai Wang, Chenguang Jia, Yanhui Luo, Sidan Li, Xuan Zhou, Tianyou Wang, Huyong Zheng and Maoquan Qin
    Citation: Orphanet Journal of Rare Diseases 2021 16:314
  45. No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. In animal and cell models ketones decrease oxidative stress, increase antioxidants and scavenge ...

    Authors: Heidi Zweers, Annemiek M. J. van Wegberg, Mirian C. H. Janssen and Saskia B. Wortmann
    Citation: Orphanet Journal of Rare Diseases 2021 16:295

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:397

  46. We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample ...

    Authors: Elvia C. Mendoza-Caamal, Francisco Barajas-Olmos, Elaheh Mirzaeicheshmeh, Ian Ilizaliturri-Flores, Carlos A. Aguilar-Salinas, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Angélica Martínez-Hernández, Cecilia Contreras-Cubas, Sergio Islas-Andrade, Carlos Zerrweck, Humberto García-Ortiz and Lorena Orozco
    Citation: Orphanet Journal of Rare Diseases 2021 16:291
  47. While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinic...

    Authors: Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce and Luís Aldámiz-Echevarría
    Citation: Orphanet Journal of Rare Diseases 2021 16:256
  48. Glycogen storage disease type 1a (GSD Ia) is characterized by severe fasting hypoglycemia. The clinical management includes the administration of uncooked cornstarch (UCCS). Although such a diet approach is ef...

    Authors: Vaneisse C. L. Monteiro, Bibiana M. de Oliveira, Bruna B. dos Santos, Fernanda Sperb-Ludwig, Lilia F. Refosco, Tatiele Nalin, Terry G. J. Derks, Carolina F. Moura de Souza and Ida V. D. Schwartz
    Citation: Orphanet Journal of Rare Diseases 2021 16:254
  49. Phenylalanine hydroxylase (PAH) deficiency is an autosomal recessive disorder that results in elevated concentrations of phenylalanine (Phe) in the blood. If left untreated, the accumulation of Phe can result ...

    Authors: Pamela K. Foreman, Andrea V. Margulis, Kimberly Alexander, Renee Shediac, Brian Calingaert, Abenah Harding, Manel Pladevall-Vila and Sarah Landis
    Citation: Orphanet Journal of Rare Diseases 2021 16:253
  50. Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chr...

    Authors: Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel and Jolanta Sykut-Cegielska
    Citation: Orphanet Journal of Rare Diseases 2021 16:239