Heritable disorders

Kielty, C.M., Hopkinson, 1., Grant, M.E. Collagen structure, assembly and organization in the extracellular matrix. In Connective Tissue and its Heritable Disorders Wiley-Liss, Chichester, pp. 103-147, 1993. 

Hydrolysis of carnosine to p-alanine and L-histidine is catalyzed by carnosinase. The heritable disorder carnosinase deficiency is characterized by carnosinuria. 

W. A. Horton J. T. Hecht, Chondrodysplasias Disorders ot Cartilage Matrix Proteins. In Connective Tissue and Its Heritable Disorders, P. M. Royce, B. Steinmann, Eds. Wiley-Liss New York, 2002 pp 909-937. 

Gibson KM, Jakobs C, Pearl PL, Snead OC (2005) Murine succinate semialdehyde dehydrogenase deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life 57 639-644... 

Kielty, C. M., and Grant, M. E. (2002). The Collagen Family Structure Assembly and Organization in the Extracellular Matrix. In Connective Tissue and its Heritable Disorders, (P. M. Royce andB. Steinmann, Eds.), pp. 159-222. Wiley-Liss, New York. 

Byers PH, Cole WG Osteogenesis imperfecta, in Royce PM, Steinmann B (eds) Connective Tissue and Its Heritable Disorders. Molecular, Genetic, and Medical Aspects, 2nd edition. New York Wiley-Liss, 2002, pp. 385-430. 

Whitley CB. The mucopolysaccharidoses. In McKusick s Heritable Disorders of Connective Tissue, 5th edition. Beighton P, ed. 1993. Mosby Year Book Inc., St Louis, MO. 

Kiehy CM, Hopkinson I, Grant ME Collagen The collagen familiy Structure, assembly, and organization in the extracellular matrix. In Royce PM, Steinman B (eds) Conncective tissue and its heritable disorders. Wiley-Liss, New York 103-147,1993... 

Although the therapy of gargoylism is not well advanced, the discovery (Lll) of an apparently related heritable disorder of acid mucopolysaccharide metabolism in cattle may facilitate study of the pathogenesis and the therapy of this condition. 

Hurler s syndrome and suggested (L12) that this condition represents another heritable disorder of connective tissue and mucopolysaccharide metabolism. Although identification of the excreted mucopolysaccha-ride(s) was not made with certainty, preliminary chemical analyses indicated its similarity to chondroitin 4- or 6-sulfate. 

Lll. Lorincz, A. E., Snorter dwarf cattle a naturally occurring heritable disorder of acid mucopolysaccharide metabolism which resembles the Hurler syndrome. A.M.A. /. Diseases Children 100, 488-489 (1960). 

Furosemide has been associated with disseminated superficial porokeratosis, a heritable disorder of cornifi-cation (17). 

ADHD is a heritable disorder. Available evidence, however, strongly points to environmental as well as genetic factors as causative for ADHD. 

Massague, J., S. Blain, and R. Lo. 2000. TGFbeta signaling in growth control, cancer, and heritable disorders. Cell 103 295-309. 

Muramoto, T, DeArmond, S.J., Scott, M., Telling, G.C., Cohen, F.E., and Rrusiner, S.B. (1997). Heritable disorder resembling neuronal storage disease in mice expressing prion protein with deletion of an a-helix. Nat. Med. 3, 750-755. 

Pseudohypoparathyroidism is a heritable disorder caused by target organ unresponsiveness to parathyroid hormone (a polypeptide hormone secreted by the parathyroid gland). One of the mutations causing this disease occurs in the gene encoding Gstt in certain cells. 

Generalized resistance to thyroid hormone (GRTH) is a rare form of thyroid disorder and may be a heritable disorder characterized by reduced responsiveness of the pituitary and peripheral tissues to the action of thyroid hormones. Behavioral manifestations include hyperactivity, behavioral problems, and cognitive... 

Osteopetrosis, also known as marble bone disease, describes a group of heritable disorders that are centered on a defect in osteoclast-mediated bone resorption. There are four autosomal recessive and one autosomal dominant forms of osteopetrosis (Table 35.4) (16). It generally is characterized by abnormally dense, brittle bone and increased skeletal mass. Unlike osteoporosis, this disorder results from decreased osteoclast activity, which has an effect on both the shape and structure of the bone. In very extreme cases, the medullary cavity, which houses bone marrow, fills with new bone, and production of hematopoietic cells is hampered. Like osteoporosis, this disease can be detected radiographically and appears as though there is a bone within a bone. There is limited evidence that bisphosphonates can induce osteopetrosis via their inhibition of osteoclast activity (17). 

Kemper AR, et al. Decision-mtiking process for conditions nominated to the recommended uniform screening panel statement of the US Department of Health and Human Services Secretary s Advisory Committee on Heritable Disorders in Newborns and Children. Genet Med. 2014 16(2) 183-7. 

Inborn errors of metabolism the title of a book by Archibold Garrod published in 1902, in which the author recognized the relationship between genes and enzymes. Many metabolic disorders caused by the absence of a protein or the synthesis of a biologically inefficient form of a protein are genetic in origin. I. e. m. is therefore a biochemical and genetic concept synonymous with inherited metabolic block, inherited metabolic disorder, heritable disorder of metabolism, enzymopathy, and other similar terms. 

A group of heritable disorders. Clinical features include hyperelastic skin, hyperextensible joints, easy bruising and poor wound healing. Collagen has decreased content of hydroxylysine. Deficient enzyme may be Lysyl oxidase (EC 1.4.3.6), Lysyl protocollagen hydroxylase (EC 1.14.11.4) or Procollagen peptidase (C-endopeptidase EC 3.4.24.19, or A-endopepti-dase EC 3.4.24.14). 

Hepatolenticular degeneration, Wilson s disease, is a severe heritable disorder of copper metabolism. The defect is caused by diminished synthesis of the copper-transporting protein ceruloplasmin and impaired excretion of copper into the bile. Copper concentration is extremely low in blood serum and high in urine furthermore, copper accumulates in liver, brain, kidney, and cornea. Chelating therapy with D-penicillamine is the medication of choice [48]. To improve copper metabolism, zinc therapy is also used [50]. 

This chapter deals with the inborn errors of catabolism (degradation) of mucopolysaccharides (or the new term glycosaminoglycans). The mucopolysaccharidoses are a group of heritable disorders of man that are characterized by acciunulation of glycosaminoglycans in the lysosomes of all cells of the body (except red blood cells) and increased excretion in the urine. 

Steinmann B (1993) Occipital Horn Syndrome, formerly Ehlers-Danlos syndrome type IX, in Connective Tissue and its Heritable Disorders (eds P.M. Royce and B. Steinmann), Wiley-Liss, New York, pp 386-387. 

---