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Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination [Hardback]

(Garg Department of Pathology and Laboratory Medicine, Childrens Mercy Hospital, Kansas City, MO, United States; University of Missouri School of Medicine, Kansas City, MO, United States), (Clinical Geneticist and Clinical Biochemical Ge)
  • Formāts: Hardback, 476 pages, height x width: 235x191 mm, weight: 1130 g
  • Sērija : Clinical Aspects and Laboratory Determination
  • Izdošanas datums: 02-Jun-2017
  • Izdevniecība: Elsevier Science Publishing Co Inc
  • ISBN-10: 0128028963
  • ISBN-13: 9780128028964
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Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory DeterminationPalielināt
  • Formāts: Hardback, 476 pages, height x width: 235x191 mm, weight: 1130 g
  • Sērija : Clinical Aspects and Laboratory Determination
  • Izdošanas datums: 02-Jun-2017
  • Izdevniecība: Elsevier Science Publishing Co Inc
  • ISBN-10: 0128028963
  • ISBN-13: 9780128028964
Citas grāmatas par šo tēmu:
Permanent link: https://www.kriso.lv/db/9780128028964.html
Keywords:

Biomarkers of Inborn Errors in Metabolism is structured by the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development and, since the biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, it also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded newborn screening for inborn metabolic diseases, increasing numbers of laboratories are involved in the follow-up confirmatory laboratory testing. The book provides guidance on laboratory test selection and results interpretation in patients with suspected inherited metabolic diseases. Illustrative metabolic pathways and the basic information on clinical presentation, genetics and pathogenesis, and treatment and prognosis of inherited metabolic diseases along with biomarkers will provide comprehensive information and guidance on patient diagnosis and follow-up.

Each chapter is organized with a uniform, easy-to-follow format: Brief description of the disorder and pathway; Brief description of treatment; Biomarkers for diagnosis; Biomarkers followed for treatment efficacy; Biomarkers followed for disease progression; Confounding conditions that can either: Affect biomarker expression or Mimic IEMs; Other Biomarkers: Less established, Future.

  • Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens
  • Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers
  • Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism
  • Offers guidance on how to distinguish acquired causes from inborn errors of metabolism

Papildus informācija

A guide to biomarkers associated with inborn errors of metabolism, their clinical application, and laboratory methods used for detection
List of Contributors
xxi
Biographies xxiii
Preface xxv
Chapter 1 Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism
1(24)
U. Garg
L.D. Smith
1.1 Introduction
1(1)
1.2 Laboratory Biomarkers and Tests in Diagnosis of IEM
2(4)
1.3 Specimen Types
6(8)
1.4 Specimen Collection and Processing
14(1)
1.5 Specimen Analysis, Quality Control, and Quality Assurance
14(5)
1.6 Method Selection and Evaluation
19(2)
1.7 Treatment and Prognosis
21(4)
References
22(3)
Chapter 2 Amino acids disorders
25(40)
P.D. DeArmond
D.J. Dietzen
A.L. Pyle-Eilola
2.1 Introduction
25(4)
2.2 Phenylketonuria (PKU)
29(3)
2.2.1 Brief Description of the Disorder and Pathway
29(1)
2.2.2 Brief Description of Treatment
29(2)
2.2.3 Biomarkers for Diagnosis
31(1)
2.2.4 Biomarkers Followed for Treatment Efficacy
32(1)
2.3 Non-PKU Hyperphenylalaninemias
32(2)
2.3.1 Brief Description of the Disorder and Pathway
32(1)
2.3.2 Brief Description of Treatment
33(1)
2.3.3 Biomarkers for Diagnosis
33(1)
2.3.4 Biomarkers Followed for Treatment Efficacy
34(1)
2.4 Tyrosinemias
34(3)
2.4.1 Brief Description of the Disorder and Pathway
34(1)
2.4.2 Biomarkers for Diagnosis
35(2)
2.4.3 Biomarkers Followed for Treatment Efficacy
37(1)
2.4.4 Confounding Conditions
37(1)
2.5 Nonketotic Hyperglycinemia (Glycine Encephalopathy)
37(4)
2.5.1 Brief Description of the Disorder and Pathway
37(2)
2.5.2 Brief Description of Treatment
39(1)
2.5.3 Biomarkers for Diagnosis
39(2)
2.5.4 Biomarkers Followed for Treatment Efficacy
41(1)
2.5.5 Other Biomarkers
41(1)
2.6 Maple Syrup Urine Disease
41(4)
2.6.1 Brief Description of the Disorder and Pathway
41(2)
2.6.2 Brief Description of Treatment
43(1)
2.6.3 Biomarkers for Diagnosis
43(1)
2.6.4 Biomarkers Followed for Treatment Efficacy
44(1)
2.6.5 Biomarkers Followed for Disease Progression
45(1)
2.6.6 Other Biomarkers: Less Established, Future
45(1)
2.7 Homocystinuria
45(3)
2.7.1 Brief Description of the Disorder and Pathway
45(1)
2.7.2 Brief Description of Treatment
46(1)
2.7.3 Biomarkers for Diagnosis
46(1)
2.7.4 Biomarkers Followed for Treatment Efficacy
47(1)
2.7.5 Other Biomarkers: Less Established, Future
47(1)
2.8 Hypermethioninemia
48(3)
2.8.1 Brief Description of the Disorder and Pathway
48(1)
2.8.2 Brief Description of Treatment
48(1)
2.8.3 Biomarkers for Diagnosis
49(1)
2.8.4 Biomarkers Followed for Treatment Efficacy
50(1)
2.8.5 Biomarkers Followed for Disease Progression
50(1)
2.8.6 Confounding Conditions That Can Cause Hypermethioninemia
50(1)
2.8.7 Other Biomarkers: Less Established, Future
50(1)
2.9 Hyperprolinemia
51(1)
2.9.1 Brief Description of the Disorder and Pathway
51(1)
2.9.2 Brief Description of Treatment
52(1)
2.9.3 Biomarkers for Diagnosis
52(1)
2.10 Sulfocysteinuria
52(3)
2.10.1 Brief Description of the Disorder and Pathway
52(1)
2.10.2 Brief Description of Treatment
52(2)
2.10.3 Biomarkers for Diagnosis
54(1)
2.10.4 Biomarkers Followed for Treatment Efficacy
55(1)
2.10.5 Confounding Conditions
55(1)
2.11 Cystinuria (OMIM: 220100)
55(10)
2.11.1 Brief Description of the Disorder and Pathway
55(1)
2.11.2 Brief Description of Treatment
56(1)
2.11.3 Biomarkers for Diagnosis
56(1)
2.11.4 Biomarkers Followed for Treatment Efficacy
56(1)
2.11.5 Biomarkers Followed for Disease Progression
57(1)
2.11.6 Other Biomarkers: Less Established, Future
57(1)
Acknowledgment
57(1)
References
57(8)
Chapter 3 Organic acid disorders
65(22)
S.F. Lo
3.1 Introduction
65(1)
3.2 Selected Organic Acid Disorders
66(13)
3.2.1 Propionic Acidemia (PA)
66(2)
3.2.2 Methylmalonic Acidemia
68(3)
3.2.3 Isovaleric Acidemia
71(2)
3.2.4 Multiple Carboxylase Deficiency (Holoenzyme Synthetase and Biotinidase)
73(1)
3.2.5 Glutaric Acidemia, Type 1
74(1)
3.2.6 3-Methylcrotonyl-CoA Carboxylase Deficiency
75(4)
3.3 Other Organic Acid Disorders
79(8)
3.3.1 Spurious Organic Acids
82(1)
References
82(5)
Chapter 4 Disorders of mitochondrial fatty acid β-oxidation
87(16)
P.M. Jones
M.J. Bennett
4.1 Introduction
87(1)
4.2 Disorders of Carnitine Transport
88(5)
4.2.1 Carnitine Transporter Defect
88(1)
4.2.2 Carnitine Palmitoyltransferase 1 Deficiency
89(2)
4.2.3 Carnitine/Acylcarnitine Translocase Defect
91(1)
4.2.4 Carnitine Palmitoyltransferase 2 Deficiency
92(1)
4.3 Disorders of Fatty Acid Oxidation
93(2)
4.4 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
95(1)
4.5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency
96(1)
4.6 Short-Chain Acyl-CoA Dehydrogenase Deficiency
97(1)
4.7 Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies
97(1)
4.8 Medium/Short-Chain L-3-Hydroxy-Acyl-CoA Dehydrogenase
98(1)
4.9 Multiple Acyl-CoA Dehydrogenase Deficiency
99(4)
References
100(3)
Chapter 5 Urea cycle and other disorders of hyperammonemia
103(22)
L.D. Smith
U. Garg
5.1 Introduction
103(2)
5.2 Brief Description of Clinical Presentation
105(1)
5.3 Urea Cycle Disorders
105(4)
5.3.1 N-acetylglutamate Synthase (NAGS) Deficiency
106(1)
5.3.2 Carbamoylphosphate Synthetase (CPS1) Deficiency
107(1)
5.3.3 Ornithine Transcarbamylase (OTC) Deficiency
107(1)
5.3.4 Argininosuccinate Synthetase Deficiency
108(1)
5.3.5 Argininosuccinate Lyase Deficiency
108(1)
5.3.6 Arginase Deficiency
108(1)
5.3.7 Mitochondrial Ornithine Transporter (SLC25A15) Defect
109(1)
5.3.8 Mitochondrial Aspartate-Glutamate Carrier (Citrin; SLC25A13) Defect/Citrullinemia Type 2
109(1)
5.4 Other Inborn Defects Associated With Hyperammonemia
109(3)
5.4.1 Lysinuric Protein Intolerance
109(1)
5.4.2 Disorders of Ornithine Metabolism
110(1)
5.4.3 Pyruvate Carboxylase Deficiency, French Form
110(1)
5.4.4 Hyperinsulinism--Hyperammonemia
111(1)
5.4.5 Organic Acidurias
111(1)
5.4.6 Fatty Acid Oxidation Defects
111(1)
5.4.7 Other
112(1)
5.5 Confounding Conditions That Can Cause Hyperammonemia
112(1)
5.5.1 Liver Disease
112(1)
5.5.2 Transient Hyperammonemia of the Newborn (THAN)
112(1)
5.5.3 Drug Therapy
112(1)
5.5.4 Other Conditions
113(1)
5.6 Biomarkers for Differential Diagnosis of Hyperammonemia
113(7)
5.6.1 Plasma Ammonia
113(1)
5.6.2 Plasma and Urine Amino Acid Profiles
113(6)
5.6.3 Urine Organic Acid and Acylcarnitine Profiles
119(1)
5.7 Biomarkers Followed for Treatment Efficacy and Disease Progression
120(1)
5.7.1 Ammonia
120(1)
5.7.2 Plasma Amino Acid Profile
120(1)
5.7.3 Carnitine
120(1)
5.7.4 Other Biomarkers
120(1)
5.8 Brief Description of Treatment
120(1)
5.9 Conclusions
121(4)
Acknowledgment
121(1)
References
121(4)
Chapter 6 Newborn screening
125(30)
M.A. Morrissey
6.1 Newborn Screening
125(4)
6.2 Amino Acid Disorders
129(6)
6.3 Organic Acidemias
135(3)
6.4 Fatty Acid Oxidation Disorders
138(5)
6.5 Region 4 Stork
143(3)
6.6 Galactosemia
146(3)
6.7 Biotinidase Deficiency
149(1)
6.8 Conclusion
150(5)
References
151(4)
Chapter 7 Carbohydrate disorders
155(12)
A.M. Ferguson
7.1 Introduction
155(1)
7.2 Galactosemia
155(3)
7.2.1 Clinical Presentation
156(1)
7.2.2 Treatment
157(1)
7.2.3 Biomarkers for Differential Diagnosis
157(1)
7.2.4 Biomarkers Followed for Treatment Efficacy
157(1)
7.2.5 Confounding Conditions
158(1)
7.3 Inborn Errors in Fructose Metabolism
158(2)
7.3.1 Clinical Presentation
158(1)
7.3.2 Confounding Conditions
159(1)
7.3.3 Biomarkers for Differential Diagnosis
159(1)
7.3.4 Treatment
159(1)
7.3.5 Biomarkers Followed for Treatment Efficacy
160(1)
7.4 Glycogen Storage Diseases
160(4)
7.4.1 Clinical Presentation
160(2)
7.4.2 Confounding Conditions
162(1)
7.4.3 Biomarkers for Differential Diagnosis
162(1)
7.4.4 Treatment
163(1)
7.4.5 Biomarkers Followed for Treatment Efficacy
164(1)
7.5 Conclusions
164(3)
References
164(3)
Chapter 8 Mitochondrial disorders
167(24)
N. Couser
M. Gucsavas-Calikoglu
8.1 Introduction
167(2)
8.2 Clinical Presentation
169(4)
8.3 Genetics
173(2)
8.4 Diagnosis
175(1)
8.5 Diagnostic Studies
175(2)
8.5.1 Biochemical Testing
175(2)
8.6 Treatment
177(3)
8.7 Confounding Conditions
180(1)
8.8 Selected Disorders
180(6)
8.8.1 Alpers--Huttenlocher Syndrome (OMIM #203700)
180(1)
8.8.2 Leber Hereditary Optic Neuropathy (OMIM #535000)
181(1)
8.8.3 Leigh Syndrome (OMIM #256000) and Neuropathy, Ataxia, Retinitis Pigmentosa Syndrome (OMIM #551500)
181(2)
8.8.4 Maternally Inherited Diabetes-Deafness Syndrome (OMIM #520000)
183(1)
8.8.5 Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-Like Episodes (OMIM #540000)
183(1)
8.8.6 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (OMIM #603041)
184(1)
8.8.7 Myoclonic Epilepsy with Ragged Red Fibers Syndrome (OMIM #545000)
184(1)
8.8.8 Pearson Marrow--Pancreas Syndrome (OMIM #557000)
185(1)
8.8.9 Progressive External Opthalmoplegia and Kearns--Sayre Syndrome (OMIM #530000)
186(1)
8.9 Conclusion
186(5)
References
187(4)
Chapter 9 Lysosomal storage disorders: mucopolysaccharidoses
191(20)
C. Yu
9.1 Introduction
191(1)
9.2 Brief Description of Clincial Presentations
191(2)
9.3 Mucopolysaccharidoses
193(4)
9.3.1 MPS I (Hurler, Hurler-Scheie, and Scheie Syndromes)
193(1)
9.3.2 MPS II (Hunter Syndrome)
193(2)
9.3.3 MPS III A, B, C, and D (Sanfilippo Syndrome, Type A, B, C, and D)
195(1)
9.3.4 MPS IV (Morquio Syndrome)
195(1)
9.3.5 MPS VI (Maroteaux--Lamy Syndrome)
196(1)
9.3.6 MPS VII (Sly Syndrome)
196(1)
9.3.7 MPS IX
196(1)
9.4 Other Diseases With MPS-Like Phenotypes
197(2)
9.4.1 Multiple Sulfatase Deficiency
197(1)
9.4.2 Sialidosis or Mucolipidoses I (ML I)
198(1)
9.4.3 Mucolipidosis II (ML II or I-Cell Disease) and Mucolipidosis III (ML III or Pseudo-Hurler Polydystrophy)
198(1)
9.4.4 Mucolipidosis IV (ML IV)
199(1)
9.5 Glycosaminoglycans and GAGS Analysis
199(4)
9.5.1 Total GAGs Analysis by Dimethylene Blue Binding Assay
200(1)
9.5.2 Qualitative Fractionation of GAGs
200(1)
9.5.3 LC-MS/MS Analyses
201(2)
9.6 Laboratory Diagnosis of MPS Disorders
203(1)
9.7 Brief Description of Treatment
203(2)
9.8 Conclusion
205(6)
Acknowledgment
205(1)
References
206(5)
Chapter 10 Lysosomal storage disorders: sphingolipidoses
211(24)
C. Yu
10.1 Introduction
211(1)
10.2 Overview of Sphingolipids Metabolism
211(2)
10.3 Sphingolipidoses
213(14)
10.3.1 GM1 Gangliosidosis
213(2)
10.3.2 GM2 Gangliosidoses (Tay-Sachs Disease, Sandhoff Disease, and GM2 Activator Protein Deficiency)
215(2)
10.3.3 Fabry Disease
217(2)
10.3.4 Gaucher Disease
219(2)
10.3.5 Niemann--Pick A/B (NPD-A and NPD-B)
221(1)
10.3.6 Metachromatic Leukodystrophy
222(2)
10.3.7 Krabbe Disease (Globoid Cell Leukodystrophy)
224(1)
10.3.8 Farber Disease
225(1)
10.3.9 Niemann--Pick Disease Type C
226(1)
10.4 Biomarkers in Current Use
227(2)
10.4.1 Plasma Chitotriosidase
227(1)
10.4.2 Plasma PARC/CCL18
227(1)
10.4.3 Plasma Glucosylsphigosine (Lyso-GL1)
228(1)
10.4.4 Plasma (or Urine) Globotriaosylsphingosine (Lyso-GB3)
228(1)
10.4.5 Urine Sulfatides
228(1)
10.4.6 Oxysterols
229(1)
10.5 Conclusion
229(6)
References
230(5)
Chapter 11 Peroxisomal disorders: clinical and biochemical laboratory aspects
235(48)
M. Dasouki
11.1 Peroxisome Structure, Biogenesis, and Function
235(5)
11.1.1 Introduction
235(2)
11.1.2 Peroxisome Biogenesis
237(1)
11.1.3 Peroxisome Dynamics
237(1)
11.1.4 Peroxisome Inheritance
238(1)
11.1.5 Transcriptional Regulation
238(1)
11.1.6 Peroxisomes and the Immune Response
239(1)
11.1.7 Peroxisomes and Cancer
240(1)
11.2 Peroxisomal Metabolism
240(5)
11.2.1 ABCD Transporters
241(1)
11.2.2 Fatty Acyl-CoA Synthetases (ACSs), Thioesterases (ACOTs), and Acyltransferases
242(1)
11.2.3 Peroxisomal Fatty Acid α- and β-Oxidation
243(1)
11.2.4 Peroxisomal Fatty Acyl-CoA Reductases 1, 2 (FAR 1, 2)
244(1)
11.2.5 Biosynthesis of Plasmalogens (Ether Phospholipids)
244(1)
11.2.6 Bile Acids Biosynthesis
245(1)
11.3 Peroxisomal Disorders Phenotypes and Associated Biochemical Abnormalities
245(19)
11.3.1 Peroxisome Biogenesis Disorders
246(9)
11.3.2 X-Linked Adrenoleukodystrophy
255(2)
11.3.3 Contiguous ABCD 1/DXS1375E Deletion Syndrome (CADDS)
257(1)
11.3.4 ABCD2 Deficiency
257(1)
11.3.5 ABCD3 Deficiency "A Novel Bile Acid Biosynthesis Disorder"
258(1)
11.3.6 Disorders of Peroxisomal Fatty Acid α-Oxidation
258(1)
11.3.7 Disorders of Peroxisomal Fatty Acid β-Oxidation
258(2)
11.3.8 Disorders of Ether Phospholipid (Plasmalogen) Biosynthesis
260(1)
11.3.9 Primary Hyperoxaluria
261(1)
11.3.10 Acatalasemia and Hypocatalasemia
262(1)
11.3.11 Mevalonic Aciduria
263(1)
11.3.12 Disorders of Peroxisomal (and Mitochondrial) Proliferation/Fission
263(1)
11.3.13 Pipecolic Acidemia
263(1)
11.3.14 Peroxisomal Mosaicism in Peroxisomal Disorders
264(1)
11.4 Laboratory Diagnosis of Peroxisomal Disorders
264(4)
11.4.1 Very Long Chain Fatty Acids
264(3)
11.4.2 Measurement of Plasmalogens and Polyunsaturated Fatty Acids
267(1)
11.4.3 Measurement of Peroxisomal Enzymes Activity and Complementation Analysis
267(1)
11.4.4 Newborn Screening for X-Linked Adrenoleukodystrophy
267(1)
11.5 Therapies for Peroxisomal Disorders
268(15)
References
272(11)
Chapter 12 Disorders of purine and pyrimidine metabolism
283(18)
L. Hubert
V.R. Sutton
12.1 Introduction
283(3)
12.2 Brief Description of Clinical Presentation
286(1)
12.3 Disorders of Purine and Pyrimidine Metabolism
286(3)
12.3.1 Disorders of De Novo Purine Biosynthesis
286(3)
12.4 Disorders of Purine Catabolism
289(2)
12.4.1 Myeloadenylate Deaminase (MADA) Deficiency
289(1)
12.4.2 Adenosine Deaminase 1 (ADA1) Deficiency
289(1)
12.4.3 Adenosine Deaminase 2 (ADA2) Deficiency
289(1)
12.4.4 Purine Nucleoside Phosphorylase (PNP Deficiency)
290(1)
12.4.5 Purine 5'-Nucleotidase Deficiency
290(1)
12.4.6 Xanthine Oxidase/Dehydrogenase (XOD) Deficiency
290(1)
12.4.7 Molybdenum Cofactor (MoCo) Deficiency
290(1)
12.5 Disorders of the Purine Salvage Pathway
291(1)
12.5.1 Hypoxanthine-Guanine Phosphoribosyl Transferase (HPRT) Deficiency
291(1)
12.5.2 Adenine Phosphoribosyl Transferase (APRT) Deficiency
291(1)
12.5.3 Adenosine Kinase (ADK) Deficiency
291(1)
12.5.4 S-Adenosyl Homocysteine Hydrolase (SAHH) Deficiency
291(1)
12.5.5 Adenylate Kinase 1 (AMPK1) Deficiency
291(1)
12.5.6 Adenylate Kinase 2 (AK2) Deficiency
292(1)
12.5.7 Deoxyguanosine Kinase (DGUOK) Deficiency
292(1)
12.6 Disorders of Uric Acid Transport
292(1)
12.6.1 Uromodulin (UMOD); Renin (REN); Hepatocyte Nuclear Factor-1-Beta (HNF1B) Deficiencies
292(1)
12.7 Disorders of De Novo of Pyrimidine Biosynthesis
292(1)
12.7.1 Dihydroorotate Dehydrogenase (DHODH) Deficiency
292(1)
12.7.2 Uridine Monophosphate Synthase (UMPS) Deficiency
292(1)
12.8 Disorders of Pyrimidine Catabolism
293(1)
12.8.1 Thymidine Phosphorylase (TP) Deficiency
293(1)
12.8.2 Dihydropyrimidine Dehydrogenase (DPD) Deficiency
293(1)
12.8.3 Dihydropyrimidinase Hydrolase (DPH) Deficiency
293(1)
12.8.4 β-Ureidopropionase (βUP) Deficiency
293(1)
12.8.5 Uridine Monophosphate Hydrolase 1 (UMPH1) Deficiency
293(1)
12.9 Disorders of the Pyrimidine Salvage Pathway
294(1)
12.9.1 Thymidine Kinase 2 (TK2) Deficiency
294(1)
12.10 Biomarkers for Detection of Purine and Pyrimidine Metabolism
294(1)
12.11 Urine and Plasma Uric Acid
294(1)
12.12 Urine Purine and Pyrimidine Profiles
295(1)
12.13 Brief Description of Treatment
295(1)
12.14 Confounding Conditions
296(1)
12.15 Conclusions
296(5)
References
297(4)
Chapter 13 Biomarkers for the study of catecholamine and serotonin genetic diseases
301(30)
A. Ormazabal
M. Molero-Luis
A. Garcia-Cazorla
R. Artuch
13.1 Brief Description of the Disorder and Pathway
301(2)
13.2 Brief Description of Treatment
303(1)
13.3 Biomarkers for Diagnosis
304(12)
13.3.1 Peripheral Markers
304(3)
13.3.2 Central Nervous System Markers
307(4)
13.3.3 Other Biomarkers in CSF
311(1)
13.3.4 Enzyme Activity Analyses
311(1)
13.3.5 Genetic Diagnosis
312(4)
13.4 Biomarkers Followed for Treatment Efficacy
316(1)
13.5 Biomarkers Followed for Disease Progression
317(1)
13.6 Confounding Conditions Affecting Biomarker Expression
317(4)
13.6.1 Biogenic Amines in Environmental and Genetic Conditions
318(1)
13.6.2 Inborn Errors of Metabolism Mimicking Monoamines Disturbances
319(1)
13.6.3 Cerebrospinal Fluid Neopterin in Immune and Inflammatory Processes
320(1)
13.7 Other Biomarkers: Less Established, Future
321(1)
13.8 Abbreviations
322(9)
References
323(8)
Chapter 14 Cerebral creatine deficiency syndromes
331(12)
Q. Sun
14.1 Introduction
331(1)
14.2 Brief Description of Clinical Presentation
331(1)
14.3 Cerebral Creatine Deficiency Syndromes
332(2)
14.3.1 Arginine: Glycine Amidinotransferase Deficiency (OMIM 612718)
332(1)
14.3.2 Guanidinoacetate Methyltransferase Deficiency (OMIM 612736)
333(1)
14.3.3 X-linked Creatine Transporter Deficiency (MIM 300352)
334(1)
14.4 Secondary Conditions That Can Cause Creatine or GAA Abnormalities
334(2)
14.4.1 Ornithine Metabolism Disorders: Ornithine δ-Aminotransferase Deficiency and Hyperornithinemia-Hyperammonemia-Homocitrullinuria
334(1)
14.4.2 Urea Cycle Disorders
335(1)
14.4.3 Homocysteine Methylation Cycle
335(1)
14.5 Biomarkers for Differential Diagnosis of Cerebral Creatine Deficiency Syndromes
336(1)
14.5.1 Guanidinoacetate
337(1)
14.5.2 Creatine
337(1)
14.6 Biomarkers Followed for Treatment Efficacy and Disease Progression
337(1)
14.7 Brief Description of Treatment
338(1)
14.8 Conclusions
338(5)
References
338(5)
Chapter 15 Congenital disorders of glycosylation
343(18)
R. Ganetzky
F.J. Reynoso
M. He
15.1 Introduction
343(1)
15.2 Brief Description of Clinical Presentation
344(1)
15.3 Selected Disorders of Glycosylation
345(5)
15.3.1 PMM2-CDG (CDG-Ia)
345(1)
15.3.2 MPI-CDG (CDG-Ib)
346(1)
15.3.3 ALG1-CDG (CDG-Ik)
347(1)
15.3.4 CDGs Presenting as Congenital Myasthenia (ALG2-CDG, ALG14-CDG, DPAGT1-CDG, GFPT1-CDG)
347(1)
15.3.5 ALG3-CDG (CDG-Id), ALG9-CDG (CDG-I1), and ALG 12-CDG (CDG-Ig)
347(1)
15.3.6 Disorders of Glycosylation in ER ALG6-CDG (CDG-Ic), ALG8-CDG (CDG-Ih)
348(1)
15.3.7 MOGS-CDG (CDG-IIb)
348(1)
15.3.8 Disorders of the Oligosaccharyltransferase (OST) and Translocon-Associated Protein (TRAP) Complexes (DDOST-CDG, MAGT1-CDG (IAP-CDG), STT3A-CDG, STT3B-CDG, TUSC3-CDG, SSR4-CDG)
348(1)
15.3.9 Disorders of the Conserved Oligomeric Golgi (COG) Complex and Golgi Membrane Proteins (COG1-CDG, COG4-CDG, COG5-CDG, COG6-CDG, COG7-CDG, COG8-CDG, TMEM165-CDG, ATP6V0A2-CDG)
349(1)
15.3.10 Disorders of O-Mannosylation (POMT1-CDG, POMT2-CDG, POMGNT1-CDG, FKRP-CDG, FKTN-CDG, LARGE-CDG)
349(1)
15.3.11 Disorders of O-Xylosylation of Proteoglycans (EXT1-CDG, EXT2-CDG, CHST14-CDG, CHSY1-CDG, B3GAT3-CDG, CHST3-CDG, B4GALT7-CDG, SLC35D1-CDG)
349(1)
15.3.12 NGLY1-CDG and GMPPA-CDG
350(1)
15.4 Other Inborn Defects Associated with Abnormal Glycosylation
350(1)
15.4.1 Galactosemia
350(1)
15.4.2 Fructosemia
350(1)
15.5 Confounding Conditions That Can Cause Abnormal Glycosylation Patterns
351(1)
15.6 Biomarkers for Diagnosis of Congenital Disorders of Glycosylation
351(4)
15.6.1 Carbohydrate-Deficient Transferrin
352(1)
15.6.2 Apolipoprotein CIII Analysis
352(1)
15.6.3 N-Glycan Analysis
352(2)
15.6.4 O-Glycan Analysis
354(1)
15.6.5 Immunohistochemistry
354(1)
15.6.6 Urine Glycans
354(1)
15.6.7 Fluorescence-Activated Cell Sorting (FACS)
354(1)
15.7 Anticipated Changes in Diagnosis and Management of CDG
355(1)
15.8 Conclusions
355(6)
References
356(5)
Chapter 16 Disorders of vitamins and cofactors
361(38)
L.D. Smith
U. Garg
16.1 Thiamine (Vitamin B1)
361(5)
16.1.1 THTR1 Deficiency
362(2)
16.1.2 THTR2 Deficiency
364(1)
16.1.3 Thiamine Pyrophosphokinase Deficiency
365(1)
16.1.4 Mitochondrial TPP Transporter Deficiency
366(1)
16.2 Riboflavin (Vitamin B2)
366(3)
16.2.1 Diagnostic Tests
367(1)
16.2.2 Treatment
368(1)
16.2.3 Confounding Conditions
368(1)
16.3 Niacin (Vitamin B3)
369(1)
16.3.1 Diagnostic Tests
369(1)
16.3.2 Treatment
369(1)
16.3.3 Confounding Conditions
369(1)
16.4 Pantothenic Acid (Vitamin B5)
370(2)
16.4.1 Diagnostic Tests
372(1)
16.4.2 Treatment
372(1)
16.4.3 Confounding Conditions
372(1)
16.5 Pyridoxine (Vitamin B6)
372(5)
16.5.1 Pyridox(am)ine 5'-Phosphate Oxidase (PNPO) Deficiency
375(1)
16.5.2 Tissue Nonspecific Alkaline Phosphatase (TNSALP) Deficiency
376(1)
16.6 Biotin (Vitamin B7)
377(5)
16.6.1 Biotinidase Deficiency
379(1)
16.6.2 Holocarboxylase Synthetase Deficiency
380(2)
16.6.3 Biotin-Responsive Basal Ganglia Disease
382(1)
16.6.4 Biotin Transporter Defect
382(1)
16.7 Cobalamin (Vitamin B12)
382(17)
16.7.1 Diagnostic Tests
383(7)
References
390(9)
Chapter 17 Disorders of trace metals
399(28)
L.D. Smith
U. Garg
17.1 Introduction
399(1)
17.2 Zinc
399(4)
17.2.1 Diagnostic Tests
402(1)
17.2.2 Treatment
403(1)
17.2.3 Confounding Conditions
403(1)
17.3 Copper
403(8)
17.3.1 Wilson Disease
405(2)
17.3.2 Menkes Disease and Occipital Horn Disease
407(4)
17.4 Molybdenum
411(3)
17.4.1 Xanthinuria Type I and II
411(1)
17.4.2 Molybdenum Cofactor (MoCo)/Sullite Oxidase Deficiency
412(2)
17.5 Manganese
414(1)
17.5.1 Diagnostic Tests
414(1)
17.5.2 Treatment
415(1)
17.5.3 Confounding Conditions
415(1)
17.6 Selenium
415(2)
17.6.1 Diagnostic Tests
416(1)
17.6.2 Treatment
417(1)
17.6.3 Confounding Conditions
417(1)
17.7 Magnesium
417(10)
17.7.1 Diagnostic Tests
418(3)
17.7.2 Treatment
421(1)
17.7.3 Confounding Diagnoses
421(1)
References
422(5)
Index 427
Dr. Uttam Garg has published over 150 research papers, review articles, and book chapters in the area of clinical biochemistry, therapeutic drug monitoring and toxicology, and Co-Edited a book on Clinical Applications of Mass Spectrometry. His research interests include methods development in clinical laboratory diagnosis. His research interests include clinical method development on a variety of diagnostic platforms including mass spectrometry. He received his Ph.D. in Experimental Medicine from the Postgraduate Institute of Medical Education and Research in India. He received his postdoctoral training in Pharmacology at and Clinical Chemistry at New York Medical College and University of Minnesota Medical School respectively. Before joining his current position, he served as faculty at the NYU Medical Center and the University of Minnesota Medical School. Laurie D. Smith, PhD MD is an Associate Professor of Pediatrics at the University of Missouri School of Medicine in Kansas City. She is a board certified pediatrician, clinical geneticist, and clinical biochemical geneticist with extensive experience in the diagnosis and management of inborn errors of metabolism. She is currently a member of the Center for Pediatric Genomic Medicine at Children's Mercy-Kansas City. She serves or has served on a number of national, regional and state committees and organization and is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics. She has published numerous research papers and book chapters. She has co-edited one book.