scholarly journals Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study

2020 ◽  
Vol 9 (3) ◽  
pp. 694 ◽  
Author(s):  
Marina Brailova ◽  
Guillaume Clerfond ◽  
Romain Trésorier ◽  
Régine Minet-Quinard ◽  
Julie Durif ◽  
...  
Keyword(s):  
Cardiac Rhythm ◽  
Metabolic Diseases ◽  
Specific Treatment ◽  
Adult Patients ◽  
Short Chain ◽  
Inherited Metabolic Diseases ◽  
Mitochondrial Cytopathies ◽  
Cardiac Implantable Electronic Devices ◽  
Chain Acyl ◽  
Scad Deficiency

Many inherited metabolic diseases (IMD) have cardiac manifestations. The aim of this study was to estimate the prevalence of IMD in adult patients with hypertrophic cardiomyopathy (HCM) and cardiac rhythm abnormalities that require cardiac implantable electronic devices (CIEDs). The study included a review of the medical files of patients aged 18 to 65 years who were followed in our cardiology department during the period 2010–2017. Metabolic explorations for Fabry disease (FD), mitochondrial cytopathies, and fatty-acid metabolism disorders were carried out in patients with unexplained etiology. The prevalence of IMD in patients with HCM was 5.6% (confidence interval (CI): 2.6–11.6). Six cases of IMD were identified: 1 mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome, 1 Hurler syndrome, 2 Friedreich’s ataxia, 1 FD, and 1 short-chain acyl-CoA dehydrogenase deficiency. Three cases of IMD were identified in patients requiring CIEDs: 1 patient with Leber hereditary optic neuropathy, 1 FD, and 1 short chain acyl-CoA dehydrogenase (SCAD) deficiency. IMD prevalence in patients with CIEDs was 3.1% (CI: 1.1–8.8). IMD evaluation should be performed in unexplained HCM and cardiac rhythm abnormalities adult patients, since the prevalence of IMD is relatively important and they could benefit from specific treatment and family diagnosis.

Inherited Metabolic Disease in Adults

2016 ◽  
Keyword(s):  
Metabolic Disease ◽  
Clinical Management ◽  
Metabolic Diseases ◽  
Adult Patients ◽  
Inherited Metabolic Diseases ◽  
Inherited Metabolic Disease ◽  
Concise Overview ◽  
Specialized Care ◽  
First Time ◽  
Pediatric Onset

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a topic that will become a growing imperative for physicians across primary and specialized care.

scholarly journals Clouds over IEMs? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

2020 ◽  
Author(s):  
Karim Gariani ◽  
Marina Nascimento ◽  
Andrea Superti-Furga ◽  
Christel Tran
Keyword(s):  
Metabolic Diseases ◽  
Clinical Care ◽  
Genetic Diagnosis ◽  
Specific Treatment ◽  
Outcome Data ◽  
Diagnosis And Treatment ◽  
Electronic Patient Records ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Inherited Metabolic Diseases

Abstract Background: Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged as a new and challenging reality. This purpose of this study of adults with IMD in an adult metabolic clinic at two academic hospitals (Lausanne and Geneva) was to help inform decisions on the future organization of health care for this group of patients. Methods: All adult patients with a biochemical and/or genetic diagnosis of IMD followed at the clinic were included in the study. Electronic patient records were reviewed for clinical features, diagnostic studies, treatment and long-term outcome. Data of undiagnosed patients referred for suspected IMD were analyzed separately. Results: 126 patients were included in the study. The most prevalent group of diseases was small molecules disorders with 82 (65%) patients, followed by energy defects disorders with 29 (23%) patients and complex molecules disorders with 15 (12%) patients. Overall, 64% of patients were diagnosed before, and 36 % after the age 16 years. Among the 126 cases, 51% suffered from medical complications. 79% of the patients were receiving a specific treatment for their disease. Among the 138 undiagnosed patients referred for suspicion of IMD, investigations lead to a genetic diagnosis in 24 (17%) patients. 19 had confirmation of an IMD, 5 were found to have another genetic condition. Conclusions: This retrospective study reveals significant features of adult IMD cohort. The disorders are heterogeneous, and there is no one-size-fits-all approach – treatment must be tailored to fit each specific disorder in each individual patient. Even patients who are followed at the dedicated clinic are not protected from metabolic decompensations and/or chronic organ-specific complications. While it is commonly assumed that patients with IMD are more stable once they become adults, our data show that the diseases continue to exact a lifelong toll. A coordinated monitoring of target organs by a multidisciplinary team is needed. To ensure that the success in diagnosis and treatment of individuals with IMD is sustained, there is a clear requirement for adequately staffed adult IMD clinics.

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

2008 ◽  
Vol 124 (1) ◽  
pp. 43-56 ◽  
Author(s):  
Christina B. Pedersen ◽  
Steen Kølvraa ◽  
Agnete Kølvraa ◽  
Vibeke Stenbroen ◽  
Margrethe Kjeldsen ◽  
...  
Keyword(s):  
Protein Misfolding ◽  
Cellular Level ◽  
Short Chain ◽  
Gene Variation ◽  
Chain Acyl ◽  
Scad Deficiency

M.P.4.16 Atypical clinical presentation of an infant with short chain acyl-CoA dehydrogenase (SCAD) deficiency

2007 ◽  
Vol 17 (9-10) ◽  
pp. 864
Author(s):  
P. Fequiere ◽  
B. Wong ◽  
L. Miles ◽  
N. Gregersen ◽  
L. Wong ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Short Chain ◽  
Atypical Clinical Presentation ◽  
Chain Acyl ◽  
Scad Deficiency

Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases

2012 ◽  
Vol 106 (1) ◽  
pp. 25-30 ◽  
Author(s):  
Chiara Cazzorla ◽  
Monica Del Rizzo ◽  
Peter Burgard ◽  
Chiara Zanco ◽  
Andrea Bordugo ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Metabolic Diseases ◽  
Adult Patients ◽  
Inherited Metabolic Diseases

Short-chain acyl CoA dehydrogenase (SCAD) deficiency

2020 ◽  
pp. 317-323
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Short Chain ◽  
Chain Acyl ◽  
Scad Deficiency
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