Inborn Metabolic Diseases
Diagnosis and Treatment
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Jean-Marie Saudubray
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Chapter
Clinical Approach to Inborn Errors of Metabolism in Paediatrics
Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presymptomati...
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Book
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Chapter
Disorders of Cellular Trafficking
Cellular trafficking is essential to maintain critical biological functions. The machinery of proteins and the mechanisms that regulate membrane trafficking is immense and tend to be cell and tissue specific. ...
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Article
Open AccessCellular neurometabolism: a tentative to connect cell biology and metabolism in neurology
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fac...
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Article
The phenotype of adult versus pediatric patients with inborn errors of metabolism
Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term “inborn,” and the concept of adult onset IEM has only very recently reached the adult medical ...
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Book
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Chapter
Disorders of Intracellular Triglyceride and Phospholipid Metabolism
Acylglycerols and phospholipids play a myriad of organ-specific roles in cell structure, biochemistry and signalling. Inborn errors of glycerolipid metabolism cause a correspondingly vast array of clinical phe...
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Chapter
Clinical Approach to Inborn Errors of Metabolism in Pediatrics
Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presymptomati...
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Article
Complex lipids
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Article
An overview of inborn errors of complex lipid biosynthesis and remodelling
In a review published in 2012, we delineated 14 inborn errors of metabolism (IEM) related to defects in biosynthesis of complex lipids, particularly phospholipids and sphingolipids (Lamari et al 2013). Given the ...
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Article
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview
Over one hundred diseases related to inherited defects of complex lipids synthesis and remodeling are now reported. Most of them were described within the last 5 years. New descriptions and phenotypes are expa...
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Article
Open AccessHypoglycaemia related to inherited metabolic diseases in adults
In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hy...
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Article
Open AccessEndocrine manifestations related to inherited metabolic diseases in adults
Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects...
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Book
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Chapter
Disorders of Phospholipid and Glycosphingolipid Synthesis
Recent advances in instrumentation and technology have led to the identification of seven inherited metabolic diseases linked to a defect in phospholipid and glycosphingolipid biosynthesis. Analysis of patient...
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Chapter
Persistent Hyperinsulinaemic Hypoglycaemia
Hyperinsulinism can present throughout childhood but is most common in infancy. Persistent hyperinsulinaemic hypoglycaemia of infancy (HI) is the most important cause of hypoglycaemia in early infancy. The exc...
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Chapter
Clinical Approach to Inborn Errors of Metabolism in Paediatrics
Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The recent application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal diagnosis has enabled presym...
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Article
Neonatal cholestasis: an uncommon presentation of hyperargininemia
Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner. Arginase is the final enzyme of the urea cycle and catalyzes the conversi...
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Chapter
Maladies neuro-métaboliques en réanimation
Les maladies métaboliques héréditaires sont dues à des mutations de gènes codant pour des enzymes ou des protéines du métabolisme.
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Article
Neurometabolic disorders
