A Quick Guide to Metabolic Disease Testing Interpretation 2nd Edition by Patricia Jones, Khushbu Patel, Dinesh Rakheja ISBN 9780128169261 0128169265
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A Quick Guide to Metabolic Disease Testing Interpretation 2nd Edition by Patricia Jones, Khushbu Patel, Dinesh Rakheja – Ebook PDF Instant Download/Delivery: 9780128169261, 0128169265
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Product details:
ISBN 10: 0128169265
ISBN 13: 9780128169261
Author: Patricia Jones, Khushbu Patel, Dinesh Rakheja
- Includes pathway diagrams and representative compound scans of important diagnostic compounds
- Provides illustrative chromatographs from selected disorders to aid in diagnosing common inborn errors of metabolism
- Highlights brief descriptions of the etiology and clinical presentation of each presented disorder
A Quick Guide to Metabolic Disease Testing Interpretation 2nd Edition Table of contents:
Section 1 – Introduction
Chapter 1 – Introduction
1 – Methodologies
1.1 – Amino acid analysis
1.2 – Acylcarnitine analysis
1.3 – Organic acid analysis
Further reading
Section 2 – Organic acidurias
Chapter 2 – Disorder: Glutaric acidemia type 1
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 3 – Disorder: Glutaric acidemia type 2
Abstract
Keywords
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatographs
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 4 – Disorder: 2-Hydroxyglutaric aciduria
Abstract
Keywords
1 – Distinct disorders that fall under 2HGA
2 – Brief synopsis
2.1 Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 5 – Disorder: Isovaleric aciduria
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 6 – Disorder: 2-Methylbutyrylglycinuria
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 7 – Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 8 – Disorder: 3-Methyglutaconic aciduria
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 9 – Disorder: Methylmalonic aciduria
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatographs
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 10 – Disorder: Propionic acidemia
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 11 – Disorder: Succinic semialdehyde dehydrogenase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Section 3 – Urea cycle defects
Chapter 12 – Disorder: Arginase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 13 – Disorder: Argininosuccinic acidemia
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 14 – Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase def
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 15 – Disorder: Citrullinemia and citrin deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromtaograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 16 – Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 17 – Disorder: Ornithine transcarbamylase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Section 4 – Disorders of amino acidmetabolism
Chapter 18 – Disorder: β-Ketothiolase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 19 – Disorder: Lysinuric protein intolerance
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 20 – Disorder: Maple syrup urine disease
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 21 – Disorder: Glycine encephalopathy
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 22 – Disorder: Phenylketonuria
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example Chromatographs
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 23 – Disorder: Tyrosinemia type 1
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Chapter 24 – Disorder: Tyrosinemia types 2 and 3
1 – Synonyms
2 – Brief Synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Example chromatograph
4.5 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
Further reading
Section 5 – Fatty acid oxidationdefects
Chapter 25 – Disorder: Carnitine-acylcarnitine translocase deficiency
1 – Synonyms
2 – Brief synopsis
2.1 – Incidence
2.2 – Etiology
3 – Clinical presentation
4 – Diagnostic compounds
4.1 – Urine organic acid profile
4.2 – Acylcarnitine profile
4.3 – Amino acids
4.4 – Other important diagnostic/monitoring compounds
5 – Newborn screening
6 – Follow-up/confirmatory testing
7 – Interferences and assay or interpretation quirks
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Tags: Patricia Jones, Khushbu Patel, Dinesh Rakheja, Metabolic Disease, Interpretation
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