Disorders of Carbohydrate Metabolism Rebecca S. Wappner CARBOHYDRATE METABOLISM Dietary carbohydrates include polymeric starch from plant sources, glycogen from animal sources, disaccharides in the form of lactose from milk sources…
Disorders of Mitochondrial Fatty Acid Oxidation Bryan E. Hainline Rebecca S. Wappner FATTY ACID METABOLISM One of the primary functions of mitochondria, the aerobic production of energy from fatty acids,…
Disorders of Amino Acid and Organic Acid Metabolism Rebecca S. Wappner DISORDERS OF PHENYLALANINE AND TYROSINE METABOLISM Phenylalanine is an essential amino acid in that it cannot be synthesized in…
Disorders of Transport Rebecca S. Wappner An increasing number of inborn errors of metabolism are being recognized to result from defects in the transport of various types of metabolites or…
Introduction to Inborn Errors of Metabolism Rebecca S. Wappner Bryan E. Hainline The concept of inherited biochemical genetic disorders was described first by Garrod in his 1908 published lecture, “Inborn…
Adrenal Medulla Patricia A. Donohoue NORMAL ADRENAL MEDULLARY DEVELOPMENT AND SECRETIONS Early in embryogenesis, primitive sympathetic nervous system ganglion cells migrate from neural ectoderm, differentiate into pheochromoblasts, and penetrate the…
Adrenal Cortex Patricia A. Donohoue NORMAL ADRENAL DEVELOPMENT AND STEROID HORMONE SYNTHESIS The fetal adrenal cortex develops from coelomic mesothelium in proximity to the developing bipotential gonads. The cortex then…
Thyroid Gland Rubina A. Heptulla NORMAL THYROID DEVELOPMENT AND THYROID HORMONE SYNTHESIS The thyroid gland first appears in the fourth week of gestation as an epithelial proliferation and invagination of…
Type 2 Diabetes Mellitus David W. Cooke Type 2 diabetes mellitus is a disorder of glucose and lipid regulation caused by a combination of decreased insulin effectiveness at the cellular…
Type 1 (Insulin-Dependent) Diabetes Mellitus Leslie P. Plotnick Type 1 (insulin-dependent) diabetes mellitus is a common, serious disease of children and adolescents. The diagnosis usually is straightforward, but long-term management…
