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Inherited metabolic diseases in Hong Kong.

Lai Ching Ha. / Thesis (Ph.D.)--Chinese University of Hong Kong, 1995. / Includes bibliographical references (leaves 225-243). / Title --- p.1 / Abstract --- p.2 / Acknowledgments --- p.4 / Contents --- p.5 / Abbreviations --- p.10 / List of Figures --- p.12 / List of Tables --- p.15 / Chapter Chapter 1 --- Review on Inherited Metabolic Diseases --- p.18 / Chapter 1.1 --- Development of the concept of inherited metabolic diseases (IMD) --- p.18 / Chapter 1.2 --- Frequency of inherited metabolic diseases --- p.20 / Chapter 1.3 --- Molecular basis of mutations in inherited metabolic diseases --- p.22 / Chapter 1.3.1 --- Point mutations --- p.22 / Chapter 1.3.2 --- Small deletions and insertions --- p.25 / Chapter 1.3.3 --- large deletions or duplications --- p.26 / Chapter 1.4 --- Pathological consequences of protein defect resultingin IMD --- p.27 / Chapter 1.4.1 --- End product --- p.28 / Chapter 1.4.2 --- Precursor accumulation --- p.28 / Chapter 1.4.3 --- Unusual metabolites --- p.29 / Chapter 1.5 --- Heterogeneity of inherited metabolic diseases --- p.29 / Chapter 1.5.1 --- Genetic heterogeneity --- p.29 / Chapter 1.5.2 --- Variations of expression in different cells --- p.31 / Chapter 1.6 --- Diagnosis of inherited metabolic diseases --- p.32 / Chapter 1.6.1. --- Biochemical investigations --- p.32 / Chapter 1.6.2 --- Identification of accumulated or missing metabolites --- p.33 / Chapter 1.6.3 --- Direct analysis of enzymes and proteins --- p.34 / Chapter 1.6.4 --- Molecular investigations --- p.34 / Chapter 1.7 --- Treatment of inherited metabolic diseases --- p.40 / Chapter 1.7.1 --- Treatment at the clinical phenotype level --- p.41 / Chapter 1.7.2 --- Treatment at the metabolite level --- p.41 / Chapter 1.7.3 --- Treatment at the dysfunctional protein level --- p.43 / Chapter 1.7.4 --- Transplantation --- p.44 / Chapter 1.7.5 --- Gene therapy --- p.45 / Chapter 1.8 --- Inherited metabolic diseases in Hong Kong --- p.47 / Chapter 1.9 --- General Aim --- p.48 / Chapter Chapter 2 --- Study of Inherited Metabolic Diseases in Mentally Retarded Patients --- p.49 / Chapter 2.1 --- Introduction --- p.49 / Chapter 2.2 --- Aim --- p.52 / Chapter 2.3 --- Materials --- p.53 / Chapter 2.3.1 --- Standards --- p.53 / Chapter 2.3.2 --- Chemical reagents --- p.53 / Chapter 2.3.3 --- Derivatization reagents --- p.54 / Chapter 2.3.4 --- Major equipment --- p.54 / Chapter 2.4 --- Clinical materials --- p.56 / Chapter 2.4.1 --- Subjects --- p.55 / Chapter 2.4.2 --- Blood and urine samples --- p.56 / Chapter 2.5 --- Methods --- p.57 / Chapter 2.5.1 --- General biochemistry tests --- p.57 / Chapter 2.5.2 --- Metabolic screening tests --- p.57 / Chapter 2.5.3 --- Two-dimensional thin layer chromatography --- p.53 / Chapter 2.5.4 --- Identification of urinary organic acids by gas chromatography mass spectroscopy --- p.59 / Chapter 2.5.5 --- Amino acid analysis by high performance liquid chromatography --- p.66 / Chapter 2.6 --- Results --- p.71 / Chapter (A) --- Methodological Aspects / Chapter 2.6.1 --- Identification of urinary organic acids by gas chromatography-mass spectroscopy (GC-MS) --- p.71 / Chapter 2.6.2 --- Amino acid analysis by high performance liquid chromatography (HPLC) --- p.86 / Chapter (B) --- Patient Investigations / Chapter 2.6.3 --- General biochemistry tests --- p.107 / Chapter 2.6.4 --- Serum amino acid profiles --- p.113 / Chapter 2.6.5 --- Urinary organic acid analysis --- p.115 / Chapter 2.6.6 --- Case reports --- p.119 / Chapter 2.7 --- Discussion --- p.123 / Chapter 2.7.1 --- Identification of urinary organic acids by gas chromatography-mass spectroscopy (GC-MS) --- p.123 / Chapter 2.7.2. --- Amino acid analysis by high performance liquid chromatography (HPLC) --- p.130 / Chapter 2.7.3 --- Identification of inherited metabolic diseases (IMD)in an institutionalized mentally retarded patients --- p.136 / Chapter Chapter 3 --- Molecular Investigation of Maple Syrup Urine Disease --- p.140 / Chapter 3.1 --- Introduction --- p.140 / Chapter 3.1.1 --- Branched chain amino acids (BCAA) --- p.140 / Chapter 3.1.2 --- Metabolism of branched chain amino acids --- p.142 / Chapter 3.1.3 --- Maple syrup urine disease (MSUD) --- p.144 / Chapter 3.1.4 --- Classification of maple syrup urine disease --- p.146 / Chapter 3.1.5 --- Screening and diagnosis of maple syrup urine disease --- p.148 / Chapter 3.1.6 --- Treatment of maple syrup urine disease --- p.150 / Chapter 3.1.7. --- Branched chain a-ketoacid dehydrogenase complex (BCKDH) --- p.151 / Chapter 3.1.8 --- "Gene features of human E1α,E1β and E2 subunitsin branched chain α-ketoacid dehydrogenase complex" --- p.153 / Chapter 3.1.9 --- Molecular defects of the BCKDH gene complex --- p.156 / Chapter 3.1.10 --- MSUD in Hong Kong --- p.161 / Chapter 3.2 --- Aim --- p.163 / Chapter 3.3 --- Materials --- p.164 / Chapter 3.3.1 --- Source of skin fibroblasts --- p.164 / Chapter 3.3.2 --- Enzymes --- p.164 / Chapter 3.3.3 --- DNA markers --- p.164 / Chapter 3.3.4 --- Reagent Kits --- p.165 / Chapter 3.3.5 --- Primers --- p.165 / Chapter 3.3.6 --- Chemical reagents --- p.165 / Chapter 3.3.7 --- Nitrocellulose membrane --- p.166 / Chapter 3.3.8 --- Antiserum for Western blotting --- p.166 / Chapter 3.3.9 --- Radioisotopes --- p.166 / Chapter 3.4 --- Methods --- p.168 / Chapter 3.4.1 --- Preparation of buffers and solutions --- p.168 / Chapter 3.4.2 --- Agarose gel electrophoresis --- p.170 / Chapter 3.4.3 --- Preparation of native polyacrylamide gel --- p.171 / Chapter 3.4.4 --- Preparation of sodium dodecyl sulfate (SDS) polyacrylamide gel --- p.172 / Chapter 3.4.5 --- Preparation of denaturing polyacrylamide gel --- p.173 / Chapter 3.4.6 --- Branched chain α-ketoacid dehydrogenase complex enzyme assay --- p.173 / Chapter 3.4.7. --- Identification of the affected subunits in BCKDH complex of MSUD patient and her family members --- p.176 / Chapter 3.4.8 --- Screening of mutation in the BCKDH subunits by RT-PCR-SSCP --- p.178 / Chapter 3.4.9 --- Mutation analysis of whole cDNA fragments of Elα, Elβ and E2 subunits by ds DNA cycle sequencing --- p.184 / Chapter 3.5 --- Results --- p.188 / Chapter 3.5.1 --- Branched chain α-ketoacid dehydrogenase complex enzyme assay --- p.188 / Chapter 3.5.2 --- Identification of the affected subunits in BCKDH complex ofMSUD patient and her family members --- p.188 / Chapter 3.5.3 --- Screening of mutation in the BCKDH subunits by RT-PCR-SSCP --- p.192 / Chapter 3.5.4 --- "Mutation analysis of whole cDNA fragments of Ela, Elβ and E2 subunits by ds DNA cycle sequencing" --- p.204 / Chapter 3.6 --- Discussion --- p.210 / Chapter 3.6.1 --- BCKDH activity in the MSUD patient and her family members --- p.210 / Chapter 3.6.2 --- Investigation of the mutation sites --- p.212 / General Conclusion --- p.222 / Appendix --- p.224 / References --- p.225

Identiferoai:union.ndltd.org:cuhk.edu.hk/oai:cuhk-dr:cuhk_318341
Date January 1995
ContributorsLai, Ching Ha., Chinese University of Hong Kong Graduate School. Division of Pathological Sciences.
PublisherChinese University of Hong Kong
Source SetsThe Chinese University of Hong Kong
LanguageEnglish
Detected LanguageEnglish
TypeText, bibliography
Formatprint, 243 leaves : ill. (some mounted) ; 30 cm.
RightsUse of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/)

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