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.

Cardiac Aspects of INHERITED METABOLIC DISEASES

2016 ◽  
Author(s):  
Perry Elliott ◽  
Giuseppe Limongelli
Keyword(s):  
Cardiac Disease ◽  
Metabolic Diseases ◽  
Heart Diseases ◽  
Glycogen Storage ◽  
Clinical Feature ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Mitochondrial Cytopathies ◽  
Inherited Metabolic Disorders ◽  
Storage Disorders

More than 40 inherited metabolic disorders cause heart disease, including fatty acid oxidation defects, glycogen storage disorders, lysosomal storage disorders, peroxisomal diseases, mitochondrial cytopathies, organic acidemias, aminoacidopathies, and congenital disorders of glycosylation. The pattern and severity of cardiac involvement varies between disorders but includes congenital heart diseases, heart muscle diseases, arrhythmias and sudden death, and heart failure. The majority of IMDs are multisystem diseases, but in a few cases cardiac disease is the predominant clinical feature and the main determinant of prognosis. For an increasing number of IEMs there are specific therapies designed to treat or ameliorate the effects of the underlying metabolic defect. In some cases, these therapies have an important effect on the progression of cardiac disease.

scholarly journals Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes

2021 ◽  
Vol 9 ◽  
Author(s):  
Emanuele Monda ◽  
Marta Rubino ◽  
Michele Lioncino ◽  
Francesco Di Fraia ◽  
Roberta Pacileo ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Neuromuscular Diseases ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Diagnosis And Treatment ◽  
Acid Oxidation ◽  
Lysosomal Storage ◽  
Mortality And Morbidity ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.

Disorders of Complex Lipids Synthesis and Remodeling

2016 ◽  
Author(s):  
Foudil Lamari ◽  
Jean-Marie Saudubray
Keyword(s):  
Metabolic Diseases ◽  
Lipid Analysis ◽  
Lysosomal Storage Diseases ◽  
Peroxisome Biogenesis ◽  
Lysosomal Storage ◽  
Peroxisome Biogenesis Disorders ◽  
Inherited Metabolic Disorders ◽  
Complex Lipids ◽  
Remarkable Progress

Defective lipid catabolic pathways are involved in numerous inherited metabolic diseases such as lysosomal storage diseases and peroxisome biogenesis disorders. We recently described a new classification of a rapidly growing group of inherited metabolic disorders involving biosynthesis and remodeling of complex lipids including phospholipids and sphingolipids. The remarkable progress achieved over the last decade in high throughput gene sequencing and in lipid analysis technologies have enabled the description of more than 40 diseases linked to defects in enzymes involved in these pathways. Some of these defects present in infancy or childhood but most of them are diagnosed in adolescence or adulthood. In this review we focus on those with adult presentation.

Breast milk feeding in infants with inherited metabolic disorders other than phenylketonuria – a 10-year single-center experience

2017 ◽  
Vol 45 (3) ◽  
Author(s):  
Karin Pichler ◽  
Miriam Michel ◽  
Manuela Zlamy ◽  
Sabine Scholl-Buergi ◽  
Elisabeth Ralser ◽  
...  
Keyword(s):  
Breast Milk ◽  
Metabolic Control ◽  
Metabolic Disorders ◽  
Acid Oxidation ◽  
Published Data ◽  
Galactose Metabolism ◽  
Single Center Experience ◽  
Inherited Metabolic Disorders ◽  
Cycle Disorders ◽  
Milk Feeding

AbstractBackground:Published data on breast milk feeding in infants suffering from inherited metabolic disorders (IMDs) other than phenylketonuria (PKU) are limited and described outcome is variable.Objective:We aimed to evaluate retrospectively whether breastfeeding and/or breast milk feeding are feasible in infants with IMDs including organic acidemias, fatty acid oxidation disorders, urea cycle disorders, aminoacidopathies or disorders of galactose metabolism.Methods:Data on breastfeeding and breast milk feeding as well as monitoring and neurological outcome were collected retrospectively from our database of patients with the mentioned IMD, who were followed in our metabolic center within the last 10 years.Results:Twenty patients were included in the study, who were either breast fed on demand or received expressed breast milk. All the infants were evaluated clinically and biochemically at 2–4-week intervals, with weight gain as the leading parameter to determine metabolic control. Good metabolic control and adequate neurological development were achieved in all patients but one, who experienced the only metabolic crisis observed within the study period.Conclusion:Breast milk feeding with close clinical and biochemical monitoring is feasible in most IMD and should be considered as it offers nutritional and immunological benefits.

Institutional experience of newborn screening for inborn metabolism disorders by tandem MS in the Turkish population

2020 ◽  
Vol 33 (6) ◽  
pp. 703-711
Author(s):  
Özlem Demirelce ◽  
Fehime Benli Aksungar ◽  
Neslihan Yildirim Saral ◽  
Meltem Kilercik ◽  
Mustafa Serteser ◽  
...  
Keyword(s):  
Amino Acid ◽  
Newborn Screening ◽  
Metabolic Disorders ◽  
Turkish Population ◽  
High Rate ◽  
Screening Tests ◽  
Acid Oxidation ◽  
Study Group ◽  
Tandem Ms ◽  
Inherited Metabolic Disorders

AbstractBackgroundThe tandem mass spectrometry method in the screening of congenital metabolic disorders is not included in routine national newborn screening programmes in Turkey. To evaluate the distribution of acylcarnitines and amino acid levels in normal newborns, establish acylcarnitine and amino acid cut-off levels and further preliminary results of inherited metabolic disorders inferentially in the Turkish population.MethodsNewborn screening tests performed by tandem MS from 2016 to 2018 were retrospectively reviewed. The study group included 17,066 newborns born in our hospitals located in various regions of Turkey. Blood samples were obtained from infants older than 24 h of age. Among the 17,066 newborns, the metabolic screening data of 9,994 full-term newborns (>37 weeks) were employed to obtain the percentile distribution of the normal population. The study group (17,066) was screened for 26 types of inborn error of metabolism.ResultsOur established cut-offs, were compared with the cut-offs determined by Region for Stork Study and Centers for Disease Control. Among the 26 screened disorders, a total of 12 cases (8 amino acid metabolism disorders, 1 urea cycle defect, 2 organic acidaemias and 1 fatty acid oxidation disorder) were identified.ConclusionsBecause of the high rate of consanguineous marriages in Turkey, the development of a nationwide screening panel is necessary for early detection and management of potentially treatable inherited metabolic disorders.

scholarly journals Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients

Metabolites ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 133 ◽  
Author(s):  
Camilla Ceccarani ◽  
Giulia Bassanini ◽  
Chiara Montanari ◽  
Maria Cristina Casiraghi ◽  
Emerenziana Ottaviano ◽  
...  
Keyword(s):  
Gut Microbiota ◽  
Dietary Intervention ◽  
Metabolic Diseases ◽  
Alpha Diversity ◽  
Dietary Treatment ◽  
Short Chain Fatty Acids ◽  
Glycogen Storage ◽  
Rrna Gene ◽  
Metabolic Complications ◽  
Glycogen Storage Diseases

A life-long dietary intervention can affect the substrates’ availability for gut fermentation in metabolic diseases such as the glycogen-storage diseases (GSD). Besides drug consumption, the main treatment of types GSD-Ia and Ib to prevent metabolic complications is a specific diet with definite nutrient intakes. In order to evaluate how deeply this dietary treatment affects gut bacteria, we compared the gut microbiota of nine GSD-I subjects and 12 healthy controls (HC) through 16S rRNA gene sequencing; we assessed their dietary intake and nutrients, their microbial short chain fatty acids (SCFAs) via gas chromatography and their hematic values. Both alpha-diversity and phylogenetic analysis revealed a significant biodiversity reduction in the GSD group compared to the HC group, and highlighted profound differences of their gut microbiota. GSD subjects were characterized by an increase in the relative abundance of Enterobacteriaceae and Veillonellaceae families, while the beneficial genera Faecalibacterium and Oscillospira were significantly reduced. SCFA quantification revealed a significant increase of fecal acetate and propionate in GSD subjects, but with a beneficial role probably reduced due to unbalanced bacterial interactions; nutritional values correlated to bacterial genera were significantly different between experimental groups, with nearly opposite cohort trends.

scholarly journals Spectrum Analysis of Inherited Metabolic Disorders for Expanded Newborn Screening in a Central Chinese Population

2022 ◽  
Vol 12 ◽  
Author(s):  
Xia Li ◽  
Jun He ◽  
Ling He ◽  
Yudong Zeng ◽  
Xuzhen Huang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Incidence Rate ◽  
Intellectual Development ◽  
Metabolic Disorders ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Abnormal Growth ◽  
Inherited Metabolic Disorders ◽  
Expanded Newborn Screening ◽  
Confirmatory Tests

Neonatal inherited metabolic disorders (IMDs) are closely associated with early neonatal death and abnormal growth and development. Increasing attention has been paid to IMDs because of their high incidence and diversity. However, there are no reports about the incidence of IMDs in Changsha, China. Therefore, we retrospectively analyzed the screening results of neonates to evaluate the characteristics of IMDs in the area. From January 2016 to December 2020, 300,849 neonates were enrolled for expanded newborn screening by tandem mass spectrometry in the Neonatal Disease Screening Center of the Changsha Hospital for Maternal & Child Health Care. Newborns with mild initial results were recalled for repeated tests; if the second test was still positive, the patient was referred for confirmatory tests. A total of 71 confirmed cases were identified in our study, with an incidence rate of 1:4,237. There were 28 cases of amino acid metabolic disorders, representing 39.44% of the IMDs diagnosed, with an incidence rate of 1:10,745. Twelve newborns were diagnosed with organic acid metabolic disorders, accounting for 16.66% of IMDs, with an incidence rate of 1:25,071. There were 31 cases of fatty acid oxidation disorders, representing 43.05% of IMDs, with an incidence rate of 1:9,705. Overall, 14 types of IMDs were found in Changsha. The most common disorders in the region were primary carnitine deficiency, hyperphenylalaninemia and short-chain acyl-CoA dehydrogenase deficiency. Their incidence rate is respectively 1:13,675, 1:16,714 and 1:42,978. The mutations in PAH, SLC22A5, and ACADS are the leading causes of IMDs in this area. This study demonstrates the importance of utilizing MS/MS in IMD screening for early diagnosis and treatment. This strategy may be used for prenatal genetic counseling to avoid irreversible growth and intellectual development disorders in children.

scholarly journals Inborn Errors of Energy Metabolism Associated with Myopathies

2010 ◽  
Vol 2010 ◽  
pp. 1-19 ◽  
Author(s):  
Anibh M. Das ◽  
Ulrike Steuerwald ◽  
Sabine Illsinger
Keyword(s):  
Energy Metabolism ◽  
Cardiac Muscle ◽  
Neuromuscular Disorders ◽  
Glycogen Storage ◽  
Exercise Intolerance ◽  
Acid Oxidation ◽  
Inborn Errors ◽  
Progressive Muscle Weakness ◽  
Glycogen Storage Diseases ◽  
Diagnostic Work

Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inborn errors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.

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