Pharmacological Therapy in Inborn Errors of Metabolism

Illsinger, Sabine

doi:10.1007/978-3-319-56637-5_62-1

Cited by 3 publications

(3 citation statements)

References 56 publications

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“…However, studies of high evidence and quality on the use of nutritional supplements are scarce, and in particular, there is a lack of literature on ADR [33]. Physicians' therapy recommendations are often derived from a basic understanding of the metabolic processes involved and are described in the literature [13,14,33]. Rarely are therapy recommendations based on guidelines, as these exist only for very few IEM.…”

Section: Adr Of Iem Medication As Perceived By the Parentsmentioning

confidence: 99%

“…Further, the life expectancy of patients with IEM increased during the last decades owing to improved diagnostics and treatment [9,10]. Treatment of the IEM often requires normalizing metabolites through substrate reduction and product supplementation [11][12][13][14]. Consequently, patients often must follow a special diet and take medicinal products or nutritional supplements regularly.…”

Section: Introductionmentioning

confidence: 99%

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Parents’ Perceptions Regarding Their Children’s Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Harings,

Neininger,

Eisenhofer

et al. 2023

Children

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We aimed to explore parents’ perceptions of their children’s medication use for inborn errors of metabolism (IEM), including the importance of medication intake, potential complications, and concerns about adverse drug reactions (ADR). Additionally, we aimed to determine expert-assessed clinically relevant drug-related problems, particularly those attributable to IEM. We interviewed 108 parents of 119 pediatric patients with IEM using a questionnaire relating to their perceptions regarding their children’s IEM medication. In affected siblings, a questionnaire was used for each child. We performed medication analyses to evaluate the patient’s complete medication regimen for clinically relevant drug-related problems, including medication for conditions other than IEM. It was very important to the parents of 85% of the patients to use IEM medication exactly as prescribed. The parents of 41% of patients perceived complications in their children’s use of IEM medication. The parents of 47% of patients reported fears concerning ADR because of IEM medication. Parents observed ADR in 27% of patients because of IEM medication. In 44% of patients, medication for conditions other than IEM was inadequate because of drug-related problems not associated with the IEM; a safe alternative existed in 21% of patients. In summary, almost half of the parents of patients with IEM reported complications with their child’s IEM medication intake and fears of ADR. Medication analyses showed that drug-related problems occurred regardless of IEM, emphasizing the general need to prescribe and dispense adequate, child-appropriate medication to minimize clinically relevant drug-related problems in pediatric patients.

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Section: Adr Of Iem Medication As Perceived By the Parentsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Parents’ Perceptions Regarding Their Children’s Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Harings,

Neininger,

Eisenhofer

et al. 2023

Children

View full text Add to dashboard Cite

show abstract

“…More recently, a nosology of IEM has been developed which classifies diseases by biochemical entity and process, a work that emerged from the European Reference Network for Hereditary Metabolic Disorders [8]. At least one classification is based neither on biochemical pathway nor clinical manifestation, but rather on modalities of treatment [12,18].…”

Section: Classification Of Treatment Mechanisms: the Ddiem Ontologymentioning

confidence: 99%

DDIEM: drug database for inborn errors of metabolism

Abdelhakim

McMurray

Syed

et al. 2020

Orphanet J Rare Dis

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Background: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources. Results: We gathered data on therapeutic strategies for 300 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology. Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.

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DDIEM: Drug Database for Inborn Errors of Metabolism

Abdelhakim

McMurray

Syed

et al. 2020

Preprint

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Background: Inborn errors of metabolism (IEM) represent a subclass of rare inherited diseases caused by a wide range of defects in metabolic enzymes or their regulation. Of over a thousand characterized IEMs, only about half are understood at the molecular level, and overall the development of treatment and management strategies has proved challenging. An overview of the changing landscape of therapeutic approaches is helpful in assessing strategic patterns in the approach to therapy, but the information is scattered throughout the literature and public data resources.Results: We gathered data on therapeutic strategies for 299 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology.Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes. DDIEM is freely available through a web interface and for download at http://ddiem.phenomebrowser.net.

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Pharmacological Therapy in Inborn Errors of Metabolism

Cited by 3 publications

References 56 publications

Parents’ Perceptions Regarding Their Children’s Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

Parents’ Perceptions Regarding Their Children’s Medications and Expert-Assessed Drug-Related Problems in Pediatric Patients with Inborn Errors of Metabolism

DDIEM: drug database for inborn errors of metabolism

DDIEM: Drug Database for Inborn Errors of Metabolism

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