Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment

Background Hereditary metabolic diseases (HMDs) are almost all rare diseases, many of which, if ascertained are treatable and preventable causes of intellectual and general disability. The improved detection and treatment of HMDs in paediatric practice has resulted in increased survival into adult l...

Full description

Saved in:
Bibliographic Details
Published in:Irish journal of medical science 2013-12, Vol.182 (4), p.565-571
Main Authors: Morrissey, L., Tiernan, C. A., Lambert, D., O’Reilly, E., Treacy, E. P.
Format: Article
Language:English
Subjects:
Adult
Family Medicine
General Practice
Genetic Predisposition to Disease
Health Surveys
Humans
Internal Medicine
Ireland - epidemiology
Medicine
Medicine & Public Health
Metabolic Diseases - diagnosis
Metabolic Diseases - epidemiology
Metabolic Diseases - genetics
Metabolic Diseases - therapy
Original Article
Phenotype
Prevalence
Prognosis
Rare Diseases - diagnosis
Rare Diseases - epidemiology
Rare Diseases - genetics
Registries
Surveys and Questionnaires
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background Hereditary metabolic diseases (HMDs) are almost all rare diseases, many of which, if ascertained are treatable and preventable causes of intellectual and general disability. The improved detection and treatment of HMDs in paediatric practice has resulted in increased survival into adult life. The identification of adult patients with HMDs who may benefit from new emerging treatments is challenging. As for many rare diseases, there are difficulties tracing patients for many of these conditions in current Irish coding systems and lack of established patient Registries. Methods In this study, we describe the efforts made to trace Irish adult patients with potentially treatable HMDs using (1) a mailed questionnaire sent to all currently registered adult Medical Specialists practising in Ireland requesting details of all cases seen over the 4-year period 2007–2010, (2) the analysis of HIPE in-patient data during this time and (3) analysis of the database held at NCIMD. Conclusions The current systems in place for identification and coding of potentially treatable HMDs are very deficient. This emphasizes the need to prioritize the development of a National HMD Registry.
ISSN:0021-1265
1863-4362
DOI:10.1007/s11845-013-0927-9