Animal Models of Inherited Metabolic Diseases. Proceedings of the International Symposium on Animal Models of Inherited Metabolic Disease Held in Bethesda, Maryland, October 19-20, 1981. Progress in Clinical and Biological Research, Volume 94.Robert J. Desnick , Donald F. Patterson , Dante G. Scarpelli

1983 ◽  
Vol 58 (3) ◽  
pp. 426-427
Author(s):  
Lee Ehrman ◽  
Joan Probber
Keyword(s):  
Metabolic Disease ◽  
Animal Models ◽  
International Symposium ◽  
Metabolic Diseases ◽  
Biological Research ◽  
Inherited Metabolic Diseases ◽  
Inherited Metabolic Disease

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 Minireview: Epigenetic Programming of Diabetes and Obesity: Animal Models

Endocrinology ◽  
2012 ◽  
Vol 153 (3) ◽  
pp. 1031-1038 ◽  
Author(s):  
Yoshinori Seki ◽  
Lyda Williams ◽  
Patricia M. Vuguin ◽  
Maureen J. Charron
Keyword(s):  
Metabolic Disease ◽  
Animal Models ◽  
Posttranslational Modifications ◽  
Cytosine Methylation ◽  
Metabolic Diseases ◽  
Later Life ◽  
Epigenetic Modifications ◽  
Micro Rna ◽  
Fetal Origins ◽  
Diabetes And Obesity

A growing body of evidence suggests that the intrauterine (IU) environment has a significant and lasting effect on the long-term health of the growing fetus and the development of metabolic disease in later life as put forth in the fetal origins of disease hypothesis. Metabolic diseases have been associated with alterations in the epigenome that occur without changes in the DNA sequence, such as cytosine methylation of DNA, histone posttranslational modifications, and micro-RNA. Animal models of epigenetic modifications secondary to an altered IU milieu are an invaluable tool to study the mechanisms that determine the development of metabolic diseases, such as diabetes and obesity. Rodent and nonlitter bearing animals are good models for the study of disease, because they have similar embryology, anatomy, and physiology to humans. Thus, it is feasible to monitor and modify the IU environment of animal models in order to gain insight into the molecular basis of human metabolic disease pathogenesis. In this review, the database of PubMed was searched for articles published between 1999 and 2011. Key words included epigenetic modifications, IU growth retardation, small for gestational age, animal models, metabolic disease, and obesity. The inclusion criteria used to select studies included animal models of epigenetic modifications during fetal and neonatal development associated with adult metabolic syndrome. Experimental manipulations included: changes in the nutritional status of the pregnant female (calorie-restricted, high-fat, or low-protein diets during pregnancy), as well as the father; interference with placenta function, or uterine blood flow, environmental toxin exposure during pregnancy, as well as dietary modifications during the neonatal (lactation) as well as pubertal period. This review article is focused solely on studies in animal models that demonstrate epigenetic changes that are correlated with manifestation of metabolic disease, including diabetes and/or obesity.

scholarly journals Inherited Metabolic Disease in the Neonatal Period: Approach to Clinical Diagnosis

2012 ◽  
Vol 32 (1) ◽  
pp. 57-64
Author(s):  
AN Onyiriuka
Keyword(s):  
Metabolic Disease ◽  
Amino Acids ◽  
Clinical Diagnosis ◽  
Metabolic Diseases ◽  
Neonatal Period ◽  
Laboratory Finding ◽  
Serum Lactate ◽  
Screening Tests ◽  
Full Blood Count ◽  
Inherited Metabolic Disease

This review article highlighted the need for clinicians to be alert to the possibility of an inherited metabolic disease (IMD) being the cause of a neonatal illness and provided a systematic approach to clinical diagnosis when IMD is suspected. Inherited metabolic disease (IMD) must be considered in the differential diagnosis of an ill neonate with nonspecific unexplained features, such as poor feeding, lethargy, failure to gain weight/weight loss, coma, apnoea, hyperventilation, seizures and hypotonia. Investigation for IMD should begin with simple urine and blood screening tests. For example, the urine examination includes checking for unusual odours, urinalysis (for ketones, amino acids, and organic acids), and reducing substance in urine, ferric chloride test and dinitrophenylhydrazine test. This is followed by simple blood tests e.g., full blood count, glucose, ammonia, amino acids, urea and electrolytes ( Na, K, Cl, P, Ca) levels, creatinine levels, liver function tests, serum lactate/pyruvate ratio and blood gases. In neonates, ketonuria with acidosis is a very important laboratory finding pointing to IMD. Although the prognosis for patients with IMD presenting in the neonatal period is often poor, every effort must be made to establish the diagnosis for parental counselling and in case prenatal diagnosis is possible in future pregnancies. In conclusion, when presented with an ill full-term neonate with nonspecific, unexplained/peculiar features pursue the usual bacterial septicaemia work-up, but in addition, consider IMD and evaluate, timely, for metabolic disease. This approach is very useful since the commonest mistake in the management of a neonate with IMD is a delay in diagnosis or a misdiagnosis, resulting in a delay in starting treatment with catastrophic consequences. Key words: inherited metabolic diseases; inborn errors of metabolism; clinical diagnosis; neonatal screening. DOI: http://dx.doi.org/10.3126/jnps.v32i1.4882   J. Nepal Paediatr. Soc. Vol.32(1) 2012 57-64

Metabolic disease and neuromuscular disorders

2020 ◽  
pp. 287-324
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Metabolic Disease ◽  
Family History ◽  
Muscular Dystrophy ◽  
Myotonic Dystrophy ◽  
Clinical Features ◽  
Metabolic Diseases ◽  
Neuromuscular Disorders ◽  
Muscular Dystrophies ◽  
Inherited Metabolic Diseases ◽  
Cardiac Symptoms

This chapter covers metabolic diseases and neuromuscular disorders. A number of inherited neuromuscular disorders may manifest with cardiac symptoms or signs. This chapter covers the most common muscular dystrophies with prominent cardiac involvement (including Duchenne, Becker, myotonic dystrophy, Emery–Dreifuss muscular dystrophy (EDMD) 1 and EDMD2, and limb girdle muscular dystrophy 2I along with clinical presentation, family history, and investigations. The chapter then goes on to general issues in inherited metabolic diseases, and their associated cardiac features. Clinical features, diagnosis, and treatment are described for each example.

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