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  1. No Access

    Chapter

    Disorders of Bile Acid Synthesis

    Bile acid synthesis defects often result in a deficiency of the primary bile acids—cholic acid and chenodeoxycholic acid—that are needed for absorption of fats and fat-soluble vitamins. Fat malabsorption leads...

    Frédéric M. Vaz, David Cassiman… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency, and Niemann-Pick Type C

    Metabolic disorders that affect the lysosomal degradation of complex carbohydrates, lipids, and proteins are associated with a wide variety of clinical symptoms. The lipidoses are the most common of the lysoso...

    Carla Hollak in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Monoamine Metabolism

    Neurotransmitters include the catecholamines (dopamine, norepinephrine, and epinephrine) and the indoleamines (serotonin and melatonin). They are chemical messengers, which mediate, amplify, or modulate synapt...

    Thomas Opladen, Georg F. Hoffmann in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Branched-Chain Amino Acid Metabolism

    Disorders in the catabolic pathways of the branched-chain amino acids (BCAA) leucine, isoleucine, and valine encompass diverse organic and amino acidurias. Clinical severity may range from asymptomatic finding...

    Manuel Schiff, Jean-François Benoist… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Inherited Disorders of Bilirubin Metabolism

    Bilirubin is the breakdown product of heme, which is the iron-containing tetrapyrrole moiety of hemoglobin, myoglobin, and several enzymes. Heme cleavage, catalyzed by microsomal heme oxygenases, gives rise to...

    Namita Roy-Chowdhury, Chandan Guha… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency

    Mucolipidosis type II/III (ML II/III) and multiple sulfatase deficiency (MSD) share clinical features with the mucopolysaccharidoses. Both ML II/III and MSD result from enzymatic defects that affect the post-t...

    Hidde H. Huidekoper, Esmee Oussoren in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Amino Acid Synthesis Deficiencies

    In recent years the list of disorders affecting amino acid synthesis has grown rapidly. Not only the number of defects has increased, but also the associated clinical phenotypes have expanded spectacular, the ...

    Tom J. de Koning, Gajja Salomons in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    The Mucopolysaccharidoses

    The mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism caused by the deficiency of lysosomal hydrolases that degrade glycosaminoglycans (GAGs). These disorders are associated with a progres...

    Giancarlo Parenti, Roberto Giugliani in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Newborn Screening for Inborn Errors of Metabolism

    Newborn screening (NBS) is a public health measure for the early detection of inborn errors of metabolism (IEM), endocrinopathies, and a variety of other disorders, where early presymptomatic detection and tre...

    Ralph Fingerhut, Janice Fletcher… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism

    Iron-sulfur (Fe-S) clusters are one of the most ancient, ubiquitous, and versatile classes of metal cofactors found in nature. In contrast to its simple structure, the biogenesis of Fe-S clusters is an extreme...

    Antonia Ribes, Frederic Tort in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Thiamine Disorders

    Thiamine or vitamin B1 is an essential water-soluble vitamin for which human body relies solely on external dietary intake. Once absorbed by two thiamine transporters, hTHTR1 and hTHTR2, the free thiamine is p...

    Majid Alfadhel, Marwan Nashabat in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Peroxisomal Disorders

    The peroxisomal disorders comprise a heterogeneous group of genetic diseases either caused by a defect in peroxisome biogenesis or in one of the metabolic functions of peroxisomes. Diagnosis of patients affect...

    Ronald J. A. Wanders, Femke C. C. Klouwer… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    3-Methylglutaconic Acidurias

    Increased urinary 3-methylglutaconic acid excretion is a relatively common finding in inborn errors of metabolism, especially in mitochondrial disorders. In most cases 3-methylglutaconic acid is only slightly ...

    Saskia B. Wortmann, Johannes A. Mayr in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Amino Acids

    The measurement of amino acids in the blood, plasma, urine, and cerebrospinal fluid is essential for the diagnosis and monitoring of patients with different inherited metabolic diseases, including disorders of...

    Marzia Pasquali, Nicola Longo in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Folate Metabolism and Transport

    Folates play an essential role in one-carbon methyl transfer reactions, mediating several biological processes including DNA synthesis, regulation of gene expression through methylation and formylation reactio...

    Robert Steinfeld, Nenad Blau in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Disorders of Niacin, NAD, and Pantothenate Metabolism

    Niacin or vitamin B3 and pantothenate or vitamin B5 are water-soluble vitamins acting as precursors of nicotinamide adenine dinucleotide (NAD) and Coenzyme A (CoA), respectively, two fundamental elements for e...

    Anna Ardissone, Daria Diodato, Ivano Di Meo… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Congenital Disorders of Glycosylation

    Congenital defects of glycosylation (CDG) are genetic diseases due to deficient glycosylation of glycoconjugates (glycoproteins, glycolipids) and to deficient synthesis of glycosylphosphatidylinositol anchors....

    Jaak Jaeken, Lambert van den Heuvel in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Knowledge Base of Inborn Errors of Metabolism (IEMbase): A Practical Approach

    Here we give an overview of the inborn errors of metabolism knowledge base, or IEMbase, a comprehensive electronic repository of the IEMs described in this book. Developed as a companion application to this te...

    Tamar V. Av-Shalom, Jessica J. Y. Lee… in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Acylcarnitines

    Carnitine and its esters (acylcarnitines) are physiologically present in all biological fluids, but carnitine is most abundant in tissues with high energy requirements, particularly skeletal and cardiac muscle...

    Dietrich Matern in Physician's Guide to the Diagnosis, Treatm… (2022)

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    Chapter

    Molybdenum Cofactor Disorders

    Molybdenum (Mo) cofactor deficiency (MoCD) is characterized by neonatal-onset myoclonic epileptic encephalopathy and dystonia with cerebral MRI changes similar to hypoxic-ischemic lesions. The initial presenta...

    Guenter Schwarz, Bernd C. Schwahn in Physician's Guide to the Diagnosis, Treatm… (2022)

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