glycogen and Dwarfism

Hyaline cartilage of the talus of a diastrophic dwarf was studied by light and transmission electron microscopy before and after proteoglycan extraction or digestion, glycogen digestion, and enzyme marking. The nuclei of the chondrocytes were as a rule large and round and the cytoplasm contained large vacuoles. Best's carmine stained the cytoplasm of most cells red; after diastase digestion the cytoplasm remained unstained. This suggested that the cells contained glycogen. This observation was complimented by the ultrastructural demonstration of large amounts of glycogen. Cell scars were frequent. The shape and state of activity of the cells as well as the development of intracytoplasmic organelles showed great variability. The matrix showed many areas of degeneration and a general dearth of sulphated acid mucopolysaccharides. A lacey pattern of unmasked collagen fibers was frequently seen. Collagen fibers showed a great variability in diameter and often appeared frayed when examined by electron microscopy. These observations suggest an enzymatic deficiency in chondrocyte mucopolysaccharide and glucose metabolism. The techniques we used when added to biochemical studies should prove useful in the investigation of human dwarfism.

Topics: Cartilage; Cell Nucleus; Child, Preschool; Dwarfism; Female; Glycogen; Glycosaminoglycans; Humans; Microscopy, Electron; Proteoglycans; Talus; Vacuoles

The influence of exogenous thyroid hormones on glycogen-body and liver glycogen was studied in fasted and full-fed 3 wk. old dwarf and non-dwarf White Leghorn chickens. The results indicated that in contrast to normals, the glycogen-body of the dwarf was still physiologically active at age 3 wks. and they also exhibited a relatively higher liver glycogen concentration. The liver glycogen concentration was significantly higher in T3-treated, full-fed dwarf chickens when compared with other groups. The data were interpreted to suggest that the differential response observed in both dwarf and non-dwarf chickens of increasing liver glycogen levels with T3 and T4 injections indicated that the proper ratios of serum T3:T4 were probably more vital to the normal metabolic functions than changes in the individual concentrations of either T3 or T4.

Topics: Animals; Chickens; Dwarfism; Female; Genes, Recessive; Glycogen; Liver Glycogen; Poultry Diseases; Sex Chromosomes; Thyroid Gland; Thyroid Hormones; Thyroxine; Triiodothyronine

Topics: Adolescent; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Dwarfism; Female; Glycogen; Humans; Hypogonadism; Infant; Intellectual Disability; Male; Microcephaly; Microscopy, Electron; Mitochondria, Muscle; Muscles; Muscular Diseases; Xeroderma Pigmentosum

Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Animals; Birds; Dwarfism; Embryo, Nonmammalian; Female; Fetal Death; Glycogen; Gonads; Infertility; Jaw Abnormalities; Kidney; Leg; Lordosis; Male; Parathion; Pregnancy

Topics: Adult; Biopsy; Diabetes Mellitus, Type 1; Dwarfism; Female; Glycogen; Hepatomegaly; Humans; Insulin; Obesity

Topics: Adipose Tissue; Animals; Calcium; Carbohydrate Metabolism; Carbon Dioxide; Diabetes Mellitus; Diabetes Mellitus, Type 1; Dwarfism; Dwarfism, Pituitary; Fatty Acids; Glycerides; Glycogen; Growth Hormone; Hypopituitarism; Kidney Function Tests; Leucine; Lipid Metabolism; Metabolism; Pharmacology; Primates; Prolactin; Research; Sheep

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinosis; Diabetes Mellitus; Dwarfism; Glycogen; Urine; Urologic Diseases

Topics: Child; Diabetes Complications; Diabetes Mellitus; Dwarfism; Glycogen; Hepatomegaly; Humans; Infant; Obesity

Topics: Child; Diabetes Complications; Diabetes Mellitus; Dwarfism; Glycogen; Hepatomegaly; Humans; Infant; Obesity

Topics: Blood; Brain; Brain Diseases; Dwarfism; Glycogen; Pituitary Diseases; Sexual Infantilism

Topics: Blood; Brain; Brain Diseases; Dwarfism; Glycogen; Pituitary Diseases; Sexual Infantilism