Inherited Metabolic Disease in Adults

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 that topic will become a growing imperative for physicians across primary and specialized care.

Table of Contents

PART A Metabolic pathways and their disorders in adults
Section 1 Disorders of carbohydrate metabolism
1 Glycogen Storage Disorders
David Cassiman, PascalLaforêt, and Fanny Mochel
2 Galactosemia
Annet M. Bosch and Elaine Murphy
3 Disorders of fructose metabolism
4 Hyperinsulinemic hypoglycemia
Arnoux JB and de Lonlay P
5 Glut1 Deficiency
Joerg Klepper and Baerbel Leiendecker
Section 2 Disorders of mitochondrial energry metabolism
6 Pyruvate dehydrogenase complex deficiency
Mirian Janssen and Shamima Rahman
7 Disorders of mitochondrial energy metabolism
Mirian Janssen and Shamima Rahman
8 Fatty acid oxidation, electron transfer and riboflavin transport defects Elaine Murphy, Christine Vianey-Saban, and Yann Nadjar
9 Disorders of ketogenesis and ketolysis
Andrew A. M. Morris
10 Disorders of creatine metabolism
D Cheillan and F Sedel
11 Coenzyme Q10 deficiency
Shamima Rahman and Mirian Janssen
Section 3 Disorders of protein metabolism
12 Phenylketonuria and Hyperphenylalaninaemia
Francjan J van Spronsen and Robin H Lachmann
13 Tyrosinaemia type I
D. Cassiman and W. Meersseman
14 Tyrosinaemia type II
Elaine Murphy
15 Alkaptonuria
Wendy J. Introne
16 Branched Chain Amino Acids
Helen Prunty, Jamie L. Fraser, Charles P. Venditti, Robin Lachmann
17 Urea Cycle Disorders
Stefan Kölker, Johannes Häberle and Valerie Walker
18 Citrin Deficiency
Adam H. Buchaklian and David P. Dimmock
19 Cystathionine beta-synthase deficiency or classical homocystinuria
Henk J Blom, Mirian CH Janssen, Manuel Schiff
20 HHH syndrome
Carlo Dionisi-Vici, Diego Martinelli, Enrico Bertini, Claude Bachmann
21 Glutaric aciduria type I
Stefan Kölker
22 2-hydroxyglutaric acidurias
Eduard A Struys, Marjo S van de Knaap, Gajja S Salomons
23 Serine Deficiency
Tom J de Koning and Frédéric Sedel
24 Cystinuria
Aude Servais and Bertrand Knebelmann
25 Lysinuric Protein Intolerance & Hartnup Disease
Gianfranco Sebastio, Manuel Schiff, Hélène Ogier de Baulny
Section 4 Vitamin metabolism disorders
26 Biotinidase deficiency and HCS
Barry Wolf and Sara Elrefai
27 Disorders Of Cobalamin And Folate Metabolism
Brian Fowler and Frederic Sedel, Blom, Vendetti
28 Disorders of thiamine metabolism
Frédéric Sedel
Section 5 Neurotransmitters
29 Succinic Semialdehyde Dehydrogenase Deficiency
K.M. Gibson, C. Jakobs, P.L. Pearl
30 Atypical Nonketotic Hyperglycinemia
Argirios Dinopoulos
31 Biogenic monoamine disorders
Emmanuel Roze and Nenad Blau
32 Brain Serotonin Deficiency
Angeles Garcia Cazorla and Rafael Artuch Iriberri
Section 6 Dyslipidemias
33 Monogenic Chylomicronemia: Deficiency Of Lipoprotein Lipase And Related Factors
Amanda J. Brahm and Robert A. Hegele
34 Familial Lecithin Cholesterol Acyl Transferase Deficiency Syndromes
Dominic S. Ng
35 Tangier Disease
Dominic S. Ng
36 Familial Apolipoprotein A-I Deficiency
Dominic S. Ng
37 Abetalipoproteinemia And Hypobetalipoproteinemia
Amanda J. Hooper & John R. Burnett
Section 7 Cholesterol synthesis disorders
38 Smith-Lemli-Opitz Syndrome
Christopher Cunniff and Raoul C Hennekam
39 Mevalonate kinase deficiency
Joost Frenkel, Hans Waterham
Section 8 Bile acid synthesis defects
40 Cerebrotendinous Xanthomatosis
Aad Verrips
41 Spastic paraplegia type 5
Fanny Mochel
Section 9 Disorders of purine and pyrimidine
42 Disorders of Purine Metabolism Affecting Adults
Irène Ceballos-Picot and H. A. Jinnah
Section 10 Porphyrias
43 Porphyrias
Janneke G Langendonk and Timothy M Cox
Section 11 Mineral and Metal metabolism disorders
44 Disorders of iron and Copper metabolism
Jean-Marc Trocello, France Woimant
45 Manganese
Karin Tuschl
Section 12 Lysosomal storage diseases
46 Lysosomal storage disorders: biochemical background, classification and laboratory diagnosis
Ben Poorthuis
47 Gaucher Disease
Carla Hollak
48 Niemann-Pick disease type B
Tarekegn Hiwot and Carla Hollak
49 Fabry disease
Michael West and Gabor Linthorst
50 Gangliosidoses (GM1 and GM2)
Emmanuel Roze and Frederic Sedel
51 Krabbe disease in adults
Frédéric Sedel
52 Metachromatic Leukodystrophy
Nicole Baumann and Jean-Claude Turpin
53 Niemann-Pick disease type C
Frédéric Sedel
54 Mucopolysaccharidosis (MPS) in Adults
Francois Karstens and Chris Hendriksz
55 Pompe Disease
Ans van der Ploeg, Pascal Laforet
56 Danon Disease
Esther Brusse, Ans T van der Ploeg, Pascal Laforêt
57 Oligosaccharidoses
Antonio Federico And Silvia Palmeri
58 Cholesteryl Ester Storage Disease
Carla Hollak
59 Ceroid lipofuscinoses
Frederic Sedel and Catherine Caillaud
60 Nephropathic cystinosis in adults
Aude Servais
Section 13 Peroxisomal disorders
61 AMN/ ALD
Marc Engelen, Bjorn van Geel, Stephan Kemp
62 Peroxisome Biogenesis Disorders,
ACYL-CoA Oxidase 1 Deficiency, D-Bifunctional Protein Deficiency
Bwee Tien Poll-The, Ronald J.A. Wanders, H.R. Waterham
Section 14 CDGs
63 Congenital disorders of glycosylation
Eva Morava and Mirian Janssen
Section 15 Miscellaneous
64 Trimethylaminuria
Robin Lachmann and Nigel Manning
65 Primary Hyperoxaluria
Jaap W. Groothoff
66 Disorders of complex lipids synthesis and remodeling
Foudil Lamari, Frédéric Sedel, Jean-Marie Saudubray
PART B Approach to Patient
Section 1 Clinical Presentations
67 Neurological and Psychiatric symptoms
Frederic Sedel &Yann Nadjar
68 Chronic Fatigue and Acute Rhabdomyolysis
Ros Quinlivan Pascal Laforet
69 Brain MRI In Inherited Metabolic Diseases Of Adulthood
Alessandro Burlina, Renzo Manara
70 Cardiac Aspects of IMDs
Perry Elliott
71 Approach To The Patient With Respiratory Signs And Symptoms
C.E.M. Hollak
72 Skeletal Abnormalities
Carla E.M. Hollak
73 Approach to the patient with general symptoms: fatigue and fever
Martijn C.G.J. Brouwers
74 Approach To The Patient With Hepato-Gastroenterological Or Abdominal Signs And Symptoms
D. Cassiman and C.E.M. Hollak
75 Ophthalmic manifestations of Inherited Metabolic Disease
Sarah Hull and Andrew R Webster
76 Emergencies
Robin Lachmann and Elaine Murphy
77 Haematological Abnormalities
Carla Hollak
Section 2 Biochemical presentations
78 Hyperammonemia
Daniel Rabier
79 Approach To The Patient With Hyperhomocysteinaemia
Tony Briddon
80 Hypoglycemia
Claire Douillard
81 Metabolic Acidosis
Simon Heales and Steve Krywawych
82 Abnormalities of CSF neurotransmitters/ folates
Simon Heales
Part C Interpretation of some common specialist metabolic tests
83 Amino Acids
Daniel Rabier
84 Interpretation Of Organic Acid Analysis Results
Marinus Duran, Isabel Tavares de Almeida
85 Interpretation Of Acylcarnitine Analysis Results
Marinus Duran, Isabel Tavares de Almeida
86 Interpretation Of Very Long-Chain Fatty Acids Analysis Results
Frédéric M. Vaz & Ronald J.A. Wanders
Part D Practical guidelines for the most prevalent disorders

Edited by Carla E. M. Hollak, Professor of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, and Edited by Robin Lachmann, Consultant in Metabolic Medicine, Head of Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery

Carla E. M. Hollak is Professor of Internal Medicine in the Division of Endocrinology and Metabolism at the University of Amsterdam and the Academic Medical Center (AMC). She heads the adult inherited metabolic unit at AMC, including the centers of excellence for Gaucher and Fabry disease and a rapidly growing service for adults with inborn errors of metabolism. Hollak regularly serves as expert for regulatory agencies both at a national and international level. She is chair of the "Erfocentrum" board, treasurer of the European Study Group on Lysosomal Diseases, and involved in activities of the European Working Group on Gaucher Disease and the Adult Metabolic Group for the Society for the Study of Inborn Errors of Metabolism.

Robin Lachmann is Consultant in Metabolic Medicine at the National Hospital for Neurology and Neurosurgery, London, where he heads the Charles Dent Metabolic Unit. He is a member of the British Inherited Metabolic Disease Group and the Society for the Study of Inborn Errors of Metabolism, serving as chair of the latter's adult group. He is Chair of the Scientific Committee of the Recordati Rare Diseases Foundation, organizing training and education in rare diseases; Chair of the Metabolic Disorders Clinical Reference Group, which advises NHS England on metabolic services; and an elected member of Council of the Royal College of Physicians, London.