Atlas of Inherited Metabolic Diseases

CRC Press, Jul 14, 2020 - Medical - 872 pages

In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to.

The content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs.

Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

Key Features

• Fully updated to incorporate all new developments in the field

• Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others

• Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management

• Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability

The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

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Selected pages

Table of Contents

Index

Preface by William L Nyhan

Methylmalonic acidemia

Cobalamin C D F G diseases methylmalonic aciduria and variable homocystinuria

The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase ACSF3

Multiple carboxylase deficiencybiotinidase deficiency	xi

Isovaleric acidemia	xxxiv

Glutaric aciduria type	li

DISORDERS OF AMINO ACID METABOLISM	23

Glycogenosis type IIIamylo1 6glucosidase debrancher deficiency	61

PEROXISOMAL DISORDERS	61

Adrenoleukodystrophy	62

Neonatal adrenoleukodystrophydisorders of peroxisomal biogenesis	63

DISORDERS OF PURINE AND PYRIMIDINE METABOLISM 64 Introduction to the disorders of purine and pyrimidine metabolism	64

LeschNyhan disease and variants	65

Adenine phosphoribosyltransferase APRT deficiency	66

Phosphoribosylpyrophosphate synthetase and its abnormalities	67

Phenylketonuria	26

Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin	26

Biogenic amines	26

Homocystinuria	26

Branched chain keto acid dehydrogenase kinase BCKDK deficiency	26

Hepatorenal tyrosinemiafumarylacetoacetate hydrolase deficiency	26

Nonketotic hyperglycinemia	26

Serine deficiencies	26

Ornithine transcarbamylase deficiency	26

Carbamylphosphate synthetase deficiency	27

Argininosuccinic aciduria	29

Argininemia	30

Hyperornithinemia hyperammonemia homocitrullinuria syndrome	16

Lysinuric protein intolerance	28

Glutamine synthetase deficiency	29

DISORDERS OF FATTY ACID OXIDATION 34 Introduction to disorders of fatty acid oxidation	29

Carnitine transporter deficiency	29

Carnitineacylcarnitine translocase deficiency	3

Carnitine palmitoyl transferase I deficiency	17

Carnitine palmitoyl transferase II deficiency lethal neonatal	29

Mediumchain acyl CoA dehydrogenase deficiency	30

Very longchain acylCoA dehydrogenase deficiency	30

Longchain L3hydroxyacylCoA dehydrogenase trifunctional protein deficiency	30

Shortchain acyl CoA dehydrogenase SCAD deficiency	30

Shortchain 3hydroxyacylCoA dehydrogenase SCHAD deficiency	30

Shortbranchedchain acylCoA dehydrogenase 2methylbutyrylCoA	30

dehydrogenase deficiency 45 Multiple acyl CoA dehydrogenase deficiencyglutaric aciduria type II ethylmalonic adipic aciduria	30

3Hydroxy3methylglutarylCoA lyase deficiency	30

THE LACTIC ACIDEMIAS AND MITOCHONDRIAL DISEASE	30

Introduction to lactic acidemias	30

Pyruvate carboxylase deficiency	30

Fructose16diphosphatase deficiency	30

Deficiency of the pyruvate dehydrogenase complex	30

Mitochondrial encephalomyelopathy lactic acidosis and strokelike episodes MELAS	30

Myoclonic epilepsy and ragged red fiber MERRF disease	52

Neurodegeneration ataxia and retinitis pigmentosa NARP	53

KearnsSayre syndrome	54

Pearson syndrome	55

mitochondrial DNA polymerase deficiency	56

DISORDERS OF CARBOHYDRATE METABOLISM	56

Galactosemia	57

introduction	58

Glycogenosis type I von Gierke disease	59

Glycogenosis type IIPompelysosomal αglucosidase deficiency	60

Adenosine deaminase deficiency	68

Adenosine kinase deficiency	69

Purine nucleoside phosphorylase deficiency	70

Adenylosuccinate lyase deficiency	71

Xanthinuria xanthine oxidase deficiency	72

Orotic aciduria	73

Molybdenum cofactor deficiency	74

MUCOPOLYSACCHARIDOSES	74

Introduction to mucopolysaccharidoses	75

Hurler diseasemucopolysaccharidosis type IH MPSIHaLiduronidase deficiency	76

Scheie and HurlerScheie diseasesmucopolysaccharidosis IS and IHSα	77

iduronidase deficiency	77

Hunter diseasemucopolysaccharidosis type IIiduronate sulfatase deficiency	78

Sanfilippo diseasemucopolysaccharidosis type III	79

Morquio syndromemucopolysaccharidosis type IVkeratan sulfaturia	80

MaroteauxLamy diseasemucopolysaccharidosis VINacetylgalactosamine4	81

MUCOLIPIDOSIS 83 Mucolipidosis II and III Icell disease and pseudoHurler polydystrophy Nacetyl glucosaminyllphosphotransferase deficiency	83

DISORDERS OF CHOLESTEROL AND NEUTRAL LIPID METABOLISM	83

Familial hypercholesterolemia	84

Mevalonic aciduria	85

Lipoprotein lipase deficiencytype I hyperlipoproteinemia	86

LIPID STORAGE DISORDERS	77

Fabry disease	87

TaySachs diseasehexosaminidase A deficiency	33

of Hex A and Hex B subunit deficiency	29

Gaucher disease	54

Niemannpick disease	101

NiemannPick type C diseasecholesterolprocessing abnormality	120

Krabbe diseasegalactosylceramide lipidosisgloboid cell leukodystrophy	138

Wolman diseasecholesteryl ester storage disease	153

Fucosidosis	172

αMannosidosis βMannosidosis 97 Galactosialidosis	200

Metachromatic leukodystrophy	216

Multiple sulfatase deficiency	216

MISCELLANEOUS 100 Disorders of vitamin B metabolism 6 101 PMM2CDG Congenital disorders of glycosylation type	216

Ethylmalonic encephalopathy	216

Disorders of creatine synthesis or transport	216

GLUT1 deficiency	216

Hypophosphatasia	216

NBASRALF deficiency	216

α1Antitrypsin deficiency	216

Appendix	216

Index	216

Copyright

Other editions - View all

Atlas of Inherited Metabolic Diseases
William L Nyhan,Georg F Hoffmann
Limited preview - 2020

Atlas of Inherited Metabolic Diseases 4E
William L. Nyhan,Georg F. Hoffman,Bruce A. Barshop
No preview available - 2019

Common terms and phrases

acute acyl-CoA dehydrogenase acylcarnitine adrenoleukodystrophy alleles amino acids analysis arginine argininosuccinic assay ataxia biochemical Biol Chem biopsy biotin biotinidase deficiency blood brain carboxylase deficiency cardiomyopathy carnitine cells cerebral chromosome CLINICAL ABNORMALITIES concentrations defect dehydrogenase deficiency deletion dystonia elevated episodes excretion exon fatty acid oxidation fibroblasts Figure galactosemia gene GENETICS AND PATHOGENESIS glucose glycine glycogen storage disease glycogenosis hepatic homocystinuria Hum Genet hyperammonemia hypoglycemia hypotonia impaired inborn errors infant Inherit Metab isovaleric acidemia lactic acidemia lactic acidosis levels liver long-chain lyase maple syrup urine metabolism methylmalonic acidemia mg/kg mitochondrial DNA Mol Genet Metab molecular muscle myopathy neonatal Neurol neurologic newborn screening nonketotic hyperglycinemia normal Nyhan WL onset organic acid patients Pediatr Res percent phenotype phenylalanine plasma prenatal diagnosis presentation propionic acidemia protein renal reported seizures storage disease type studies symptoms syndrome synthetase syrup urine disease therapy transport treatment tyrosine tyrosinemia urea cycle urinary variant �mol/L

About the author (2020)

William L. Nyhan, MD, PhD, is Professor of Pediatrics and Founding Director of The William L. Nyhan Biochemical Genetics and Metabolomics Laboratory at the University of California, San Diego.

Georg F. Hoffmann, MD, is Professor of Pediatrics and Chairman of the University Children’s Hospital and Head of the Center of Rare Diseases at the University Clinic Heidelberg in Heidelberg, Germany.

Aida I. Al-Aqeel and Bruce A. Barshop have also provided contributions.

Bibliographic information

Title	Atlas of Inherited Metabolic Diseases
Authors	William L Nyhan, Georg F Hoffmann
Edition	4, illustrated
Publisher	CRC Press, 2020
ISBN	1138196622, 9781138196629
Length	872 pages
Subjects	Medical › Genetics Medical / Endocrinology & Metabolism Medical / Genetics Medical / Pediatrics

Export Citation	BiBTeX EndNote RefMan

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