Erfelijke metabole ziekten bij volwassenen

Mirjam Langeveld; Martijn C G J Brouwers; Laura van Dussen; Lisette H Koens; Janneke G L Langendonk; Mirian C H Janssen

Erfelijke metabole ziekten bij volwassenen

Translated title of the contribution: Inherited metabolic disorders in adults: growing patient numbers, advanced diagnostic tools and new treatment modalities

Mirjam Langeveld^*
, Martijn C G J Brouwers
, Laura van Dussen
, Lisette H Koens
, Janneke G L Langendonk
, Mirian C H Janssen

^*Corresponding author for this work

Research output: Contribution to journal › (Systematic) Review article › peer-review

Abstract

Adults with inherited metabolic disorders (IMD) are a growing patient group. In the Netherlands, adult IMD patient numbers increased fourfold over the past 15 years, from 846 to 3518 individuals, divided over 160 different disorders. The most common disorders are mitochondrial diseases, phenylketonuria and Fabry disease. Approximately half of the patients are diagnosed after age 16. Adult IMD patients require specific care, provided by adult metabolic specialists. Those specialists include, but are not limited to, internists, endocrinologists, neurologists and dieticians. The application of new diagnostic tools, enabling measurement of a large panel of metabolites and assessment of large part of the genome, have greatly improved IMD diagnostics. Better recognition of adults with IMDs, combined with new treatment modalities, will improve quality of life of adults with IMD in the decades to come.

Translated title of the contribution	Inherited metabolic disorders in adults: growing patient numbers, advanced diagnostic tools and new treatment modalities
Original language	Dutch
Article number	D8476
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	169
Publication status	Published - 15 Jul 2025

Keywords

Humans
Adult
Metabolism, Inborn Errors/diagnosis epidemiology therapy
Netherlands/epidemiology
Quality of Life

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https://www.ntvg.nl/artikelen/erfelijke-metabole-ziekten-bij-volwassenen

Cite this

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title = "Erfelijke metabole ziekten bij volwassenen",

abstract = "Adults with inherited metabolic disorders (IMD) are a growing patient group. In the Netherlands, adult IMD patient numbers increased fourfold over the past 15 years, from 846 to 3518 individuals, divided over 160 different disorders. The most common disorders are mitochondrial diseases, phenylketonuria and Fabry disease. Approximately half of the patients are diagnosed after age 16. Adult IMD patients require specific care, provided by adult metabolic specialists. Those specialists include, but are not limited to, internists, endocrinologists, neurologists and dieticians. The application of new diagnostic tools, enabling measurement of a large panel of metabolites and assessment of large part of the genome, have greatly improved IMD diagnostics. Better recognition of adults with IMDs, combined with new treatment modalities, will improve quality of life of adults with IMD in the decades to come.",

keywords = "Humans, Adult, Metabolism, Inborn Errors/diagnosis epidemiology therapy, Netherlands/epidemiology, Quality of Life",

author = "Mirjam Langeveld and Brouwers, \{Martijn C G J\} and \{van Dussen\}, Laura and Koens, \{Lisette H\} and Langendonk, \{Janneke G L\} and Janssen, \{Mirian C H\}",

year = "2025",

month = jul,

day = "15",

language = "Dutch",

volume = "169",

journal = "Nederlands Tijdschrift voor Geneeskunde",

issn = "0028-2162",

publisher = "Vereniging Nederlands Tijdschrift voor Geneeskunde",

}

TY - JOUR

T1 - Erfelijke metabole ziekten bij volwassenen

AU - Langeveld, Mirjam

AU - Brouwers, Martijn C G J

AU - van Dussen, Laura

AU - Koens, Lisette H

AU - Langendonk, Janneke G L

AU - Janssen, Mirian C H

PY - 2025/7/15

Y1 - 2025/7/15

N2 - Adults with inherited metabolic disorders (IMD) are a growing patient group. In the Netherlands, adult IMD patient numbers increased fourfold over the past 15 years, from 846 to 3518 individuals, divided over 160 different disorders. The most common disorders are mitochondrial diseases, phenylketonuria and Fabry disease. Approximately half of the patients are diagnosed after age 16. Adult IMD patients require specific care, provided by adult metabolic specialists. Those specialists include, but are not limited to, internists, endocrinologists, neurologists and dieticians. The application of new diagnostic tools, enabling measurement of a large panel of metabolites and assessment of large part of the genome, have greatly improved IMD diagnostics. Better recognition of adults with IMDs, combined with new treatment modalities, will improve quality of life of adults with IMD in the decades to come.

AB - Adults with inherited metabolic disorders (IMD) are a growing patient group. In the Netherlands, adult IMD patient numbers increased fourfold over the past 15 years, from 846 to 3518 individuals, divided over 160 different disorders. The most common disorders are mitochondrial diseases, phenylketonuria and Fabry disease. Approximately half of the patients are diagnosed after age 16. Adult IMD patients require specific care, provided by adult metabolic specialists. Those specialists include, but are not limited to, internists, endocrinologists, neurologists and dieticians. The application of new diagnostic tools, enabling measurement of a large panel of metabolites and assessment of large part of the genome, have greatly improved IMD diagnostics. Better recognition of adults with IMDs, combined with new treatment modalities, will improve quality of life of adults with IMD in the decades to come.

KW - Humans

KW - Adult

KW - Metabolism, Inborn Errors/diagnosis epidemiology therapy

KW - Netherlands/epidemiology

KW - Quality of Life

M3 - (Systematic) Review article

SN - 0028-2162

VL - 169

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

M1 - D8476

ER -

Erfelijke metabole ziekten bij volwassenen

Abstract

Keywords

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