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Nutrients
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Advances in Inherited Metabolic Disorders
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Advances in Inherited Metabolic Disorders

A special issue of Nutrients (ISSN 2072-6643). This special issue belongs to the section "Nutrition and Metabolism".

Deadline for manuscript submissions: closed (31 July 2021) | Viewed by 26683

Special Issue Editor

Dr. Iris Scala

E-Mail Website
Guest Editor
Department of Maternal and Child Health, Pediatric Section, Federico II University Hospital, Naples, Italy
Interests: Phenylketonuria; Inherited Metabolic Disorders; Pediatric Rare Disorders; Clinical Genetics;

Special Issue Information

Dear Colleagues, 

Inborn errors of metabolism (IEM) are a group of rare genetic diseases caused by defects in genes coding for enzymes, structural proteins, or transporters belonging to a metabolic pathway. These diseases often arise due to the accumulation of toxic substrates or the deficiency of essential metabolites. Hundreds of inherited disorders of metabolism have been described, affecting lipid, carbohydrate, organic acid, and amino acids metabolism, as well as mitochondria, lysosome, and peroxisomal function, among others. 

For decades, nutrition has been the key therapeutic option for most IEM. Indeed, the management of IEM has traditionally consisted in dietary approaches and supportive therapy. In the field of nutrition, great efforts have been made to improve the quality of dietary therapy according to the increasing knowledge of the nutritional requirements of patients. In the past years, other treatments have become available, including enzyme and coenzyme replacement therapy, elimination of harmful substances, cell and organ transplantation, and gene therapy. The increasing therapeutic opportunities have encouraged efforts for early diagnosis in order to improve prognosis, reduce disease severity, and increase treatment efficacy. The expanded newborn screening programs play a crucial role in early diagnosis and identification of new disease phenotypes. In this frame, the study of the pathophysiology of IEM and of innovative therapeutic approaches has become an exciting research topic.

This Special Issue of Nutrients, entitled “Advances in Inherited Metabolic Disorders”, welcomes the submission of manuscripts, either describing original research or reviewing the scientific literature, focused on newly identified pathogenic mechanisms, nutritional approaches, and innovative therapies for IEM. Studies depicting the natural history of recognized diseases and how their prognosis has changed in the era of expanded newborn screening and novel clinical phenotypes are also very welcome.

Dr. Iris Scala
Guest Editor

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Inborn Errors of Metabolism
  • Diet
  • Nutritional approach
  • Enzyme replacement/substitute therapy
  • Substrate reduction therapy
  • Liver transplantation
  • Gene therapy
  • Phenylketonuria
  • Amino acid metabolism disorders
  • Carbohydrate metabolism disorders
  • Lipid metabolism disorders
  • Energy metabolism disorders
  • Organic acid disorders
  • Expanded newborn screening

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Published Papers (4 papers)

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Research

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11 pages, 1444 KiB  
Article
Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria
by Iris Scala, Daniela Concolino, Anna Nastasi, Giulia Esposito, Daniela Crisci, Simona Sestito, Stefania Ferraro, Lucia Albano, Margherita Ruoppolo, Giancarlo Parenti and Pietro Strisciuglio
Nutrients 2021, 13(11), 4012; https://doi.org/10.3390/nu13114012 - 10 Nov 2021
Cited by 3 | Viewed by 2442
Abstract
The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients. Adhering to this diet is challenging, and even patients with good metabolic control who follow the dietary prescriptions in everyday life ignore the recommendations occasionally. [...] Read more.
The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients. Adhering to this diet is challenging, and even patients with good metabolic control who follow the dietary prescriptions in everyday life ignore the recommendations occasionally. The present study explores the ability of slow-release large neutral amino acids (srLNAAs) to prevent Phe increase following a Phe dietary load. Fourteen phenylketonuric patients aged ≥13 years were enrolled in a 6-week protocol. Oral acute Phe loads of 250 and 500 mg were added to the evening meal together with srLNAAs (0.5 gr/kg). Phe and tyrosine were dosed before dinner, 2h-after dinner, and after the overnight fast. After oral Phe loads, mean plasma Phe remained stable and below 600 µmol/L. No Phe peaks were registered. Tyrosine levels significantly increased, and Phe/Tyrosine ratio decreased. No adverse events were registered. In conclusion, a single oral administration of srLNAAs at the dose of 0.5 gr/kg is effective in maintaining stable plasma Phe during acute oral loads with Phe-containing food and may be added to the dietetic scheme in situations in which patients with generally good adherence to diet foresee a higher than prescribed Phe intake due to their commitments. Full article
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
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18 pages, 2488 KiB  
Article
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study
by Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich and Tomáš Honzík
Nutrients 2021, 13(9), 2925; https://doi.org/10.3390/nu13092925 - 24 Aug 2021
Cited by 9 | Viewed by 5088
Abstract
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was [...] Read more.
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD/MTPD) and medium chain acyl-CoA dehydrogenase deficiency (MCADD) were included in the expanded neonatal screening program (ENBS) in Czechia in 2009, allowing for the presymptomatic diagnosis and nutritional management of these patients. The aim of our study was to assess the nationwide impact of ENBS on clinical outcome. This retrospective study analysed acute events and chronic complications and their severity in pre-ENBS and post-ENBS cohorts. In total, 28 children (12 before, 16 after ENBS) were diagnosed with LCHADD/MTPD (incidence 0.8/100,000 before and 1.2/100,000 after ENBS). In the subgroup detected by ENBS, a significantly longer interval from birth to first acute encephalopathy was observed. In addition, improvement in neuropathy and cardiomyopathy (although statistically non-significant) was demonstrated in the post-ENBS subgroup. In the MCADD cohort, we included 69 patients (15 before, 54 after ENBS). The estimated incidence rose from 0.7/100,000 before to 4.3/100,000 after ENBS. We confirmed a significant decrease in the number of episodes of acute encephalopathy and lower proportion of intellectual disability after ENBS (p < 0.0001). The genotype–phenotype correlations suggest a new association between homozygosity for the c.1528C > G variant and more severe heart involvement in LCHADD patients. Full article
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
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8 pages, 1114 KiB  
Communication
Differential Effects of Sucrase-Isomaltase Mutants on Its Trafficking and Function in Irritable Bowel Syndrome: Similarities to Congenital Sucrase-Isomaltase Deficiency
by Diab M. Husein, Sandra Rizk and Hassan Y. Naim
Nutrients 2021, 13(1), 9; https://doi.org/10.3390/nu13010009 - 22 Dec 2020
Cited by 14 | Viewed by 3903
Abstract
Congenital sucrase-isomaltase deficiency (CSID) is a rare metabolic intestinal disorder with reduced or absent activity levels of sucrase-isomaltase (SI). Interestingly, the main symptoms of CSID overlap with those in irritable bowel syndrome (IBS), a common functional gastrointestinal disorder with unknown etiology. Recent advances [...] Read more.
Congenital sucrase-isomaltase deficiency (CSID) is a rare metabolic intestinal disorder with reduced or absent activity levels of sucrase-isomaltase (SI). Interestingly, the main symptoms of CSID overlap with those in irritable bowel syndrome (IBS), a common functional gastrointestinal disorder with unknown etiology. Recent advances in genetic screening of IBS patients have revealed rare SI gene variants that are associated with IBS. Here, we investigated the biochemical, cellular and functional phenotypes of several of these variants. The data demonstrate that the SI mutants can be categorized into three groups including immature, mature but slowly transported, and finally mature and properly transported but with reduced enzymatic activity. We also identified SI mutant phenotypes that are deficient but generally not as severe as those characterized in CSID patients. The variable effects on the trafficking and function of the mutations analyzed in this study support the view that both CSID and IBS are heterogeneous disorders, the severity of which is likely related to the biochemical phenotypes of the SI mutants as well as the environment and diet of patients. Our study underlines the necessity to screen for SI mutations in IBS patients and to consider enzyme replacement therapy as an appropriate therapy as in CSID. Full article
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
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Review

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17 pages, 908 KiB  
Review
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
by Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos and John Mitchell
Nutrients 2021, 13(11), 3828; https://doi.org/10.3390/nu13113828 - 27 Oct 2021
Cited by 36 | Viewed by 14223
Abstract
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and [...] Read more.
Glycogen storage disease type Ia (GSDIa) is caused by defective glucose-6-phosphatase, a key enzyme in carbohydrate metabolism. Affected individuals cannot release glucose during fasting and accumulate excess glycogen and fat in the liver and kidney, putting them at risk of severe hypoglycaemia and secondary metabolic perturbations. Good glycaemic/metabolic control through strict dietary treatment and regular doses of uncooked cornstarch (UCCS) is essential for preventing hypoglycaemia and long-term complications. Dietary treatment has improved the prognosis for patients with GSDIa; however, the disease itself, its management and monitoring have significant physical, psychological and psychosocial burden on individuals and parents/caregivers. Hypoglycaemia risk persists if a single dose of UCCS is delayed/missed or in cases of gastrointestinal intolerance. UCCS therapy is imprecise, does not treat the cause of disease, may trigger secondary metabolic manifestations and may not prevent long-term complications. We review the importance of and challenges associated with achieving good glycaemic/metabolic control in individuals with GSDIa and how this should be balanced with age-specific psychosocial development towards independence, management of anxiety and preservation of quality of life (QoL). The unmet need for treatment strategies that address the cause of disease, restore glucose homeostasis, reduce the risk of hypoglycaemia/secondary metabolic perturbations and improve QoL is also discussed. Full article
(This article belongs to the Special Issue Advances in Inherited Metabolic Disorders)
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