Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders

2012 ◽  
Vol 1226 ◽  
pp. 11-17 ◽  
Author(s):  
Hana Janečková ◽  
Karel Hron ◽  
Petr Wojtowicz ◽  
Eva Hlídková ◽  
Anna Barešová ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Plasma Samples ◽  
Metabolomic Analysis ◽  
Inherited Metabolic Disorders

scholarly journals Untargeted metabolomic analysis of urine samples in the diagnosis of some inherited metabolic disorders

2015 ◽  
Vol 159 (4) ◽  
pp. 582-585 ◽  
Author(s):  
Hana Janeckova ◽  
Alzbeta Kalivodova ◽  
Lukas Najdekr ◽  
David Friedecky ◽  
Karel Hron ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Urine Samples ◽  
Metabolomic Analysis ◽  
Inherited Metabolic Disorders ◽  
Analysis Of Urine

Ketogenic diets in patients with inherited metabolic disorders

2015 ◽  
Vol 38 (4) ◽  
pp. 765-773 ◽  
Author(s):  
S. Scholl-Bürgi ◽  
A. Höller ◽  
K. Pichler ◽  
M. Michel ◽  
E. Haberlandt ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Ketogenic Diets ◽  
Inherited Metabolic Disorders

INHERITED METABOLIC DISORDERS AND HEART DISEASES

2019 ◽  
Author(s):  
Vjekoslav Krželj ◽  
Ivana Čulo Čagalj
Keyword(s):  
Metabolic Disorders ◽  
Metabolic Diseases ◽  
Technological Development ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Glycogen Storage Diseases ◽  
Coronary Diseases ◽  
Inherited Metabolic Disorders

Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in cases when heart diseases are etiologically undefined. Rapid technological development has made it easier to establish the diagnosis of these diseases. This article will focus on common inherited metabolic disorders that cause heart diseases, as well as on diseases that might be possible to treat.

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