Congenital and Metabolic Diseases

Description: There is no single unifying trait for these disorders. Some have their genetic defect well characterized. Others are still waiting for the discovery of the gene or genes which are damaged. The diagnosis requires careful clinical laboratory evaluation and may require testing for enzymes that are only available in research laboratories. Biopsy diagnosis may play an important role, not only in establishing the diagnosis, but providing fresh tissue for molecular and enzyme studies. Acrodermatitis Enteropathica Alagille Syndrome Alkaptonuria (Ochronosis) Alpha-1-Antitrypsin Deficiency Alport Syndrome Amyloid Bannayan-Zonana Syndrome Canavan Disease Common Variable Immunodeficiency Cowden Syndrome Cystic Fibrosis Diabetes Insipidus Down Syndrome (Trisomy 21) Ectodermal Dysplasia Ehlers-Danlos Disease Fabry Disease Fucosidosis Galactosemia Gaucher Disease Glucagonoma Gout Juvenile Hyaline Fibromatosis (Murray-Puretic Syndrome) Mucopolysaccharidoses Necrolytic Migratory Erythema Neurofibromatosis Ochronosis (Alkaptonuria) Osteogenesis Imperfecta Porphyria Proteus Syndrome Pseudogout Pseudoporphyria Refsum's Disease Restrictive Dermopathy Retinitis Pigmentosa Rubinstein-Taybi Syndrome Scurvy (Vitamin C Deficiency) Shwachman-Diamond Syndrome Syndrome of Inappropriate Anti-Diuretic Hormone (SIADH) Tuberous Sclerosis von Hippel-Lindau Disease Williams Syndrome