Inherited metabolic disease

Pollitt, R. J., 1995. Disorders of mitochondrial long-chain fatty acid oxidation. Journal of Inherited Metabolic Disease 18 473—490. 

E. Podehrad, M. Heil, S. Leih, B. Geier, T. Beck, A. Mosandl, A. C. Sewell and H. Bohles, Analytical approach in diagnosis of inherited metabolic diseases maple syrup urine disease (MSUD)-simultaneous analysis of metabolites in urine by enantioselective multidimensional capillary gas chromatography-mass specti ometiy (enantio-MDGC-MS) , 7. High Resolut. Chromatogr. 20 355-362(1997). 

Modified and reproduced, with permission, from DiNataie P, Neufeid EF The biochemicai diagnosis of mucopoiysaccharidoses, mucoiipidoses and reiated disorders, in Perspectives in Inherited Metabolic Diseases, voi 2. Barr B et ai (editors). Editiones Ermes (Miian),1979. 

CLIMB (Children Living with Inherited Metabolic Diseases) (UK) http //www.climb.org.uk... 

Elsas LJII, Acosta PB. Nutrition support of inherited metabolic disease. In Shils ME, Olson JA, Shike M, eds. Modern Nutrition in Health and Disease, 8th ed. Philadelphia Lea Febiger, 1994, 11471206. 

Rozen, R. (1996) Molecular genetics of methylenetetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease. 19, 589-594. 

Author(s) Blom W, Polder-Mol AC, Kelholt-Dijkman HH, Hierck L, Huijmans JG. Source Journal of Inherited Metabolic Disease. 

Holton JB. Diagnosis of inherited metabolic disease in acutely ill children. Ann Clin Biochem 1982 19 389-395... 

Their relative blood concentrations are an expression of nutritional balance, providing a view of the metabolic disturbances arising in a patient. In conjunction with the measurement of unesterified fatty acids (UEFA) and glucose, they are useful tools with which to investigate intermediary metabolism in health and disease, particularly in inherited metabolic diseases. 

Hutchesson A, Preece MA, Gray G, Green A (1997) Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Clin Chem 43 158-161... 

Inherited defects of amino acid catabolism, biosynthesis, or transport have been known for many years the number of novel defects is only slowly increasing [1,3,4, 10, 12]. In this respect, cystinuria was among the first four inherited metabolic diseases described by Garrod 100 years ago. The disease with the highest impact on the community - phenylketonuria (PKU) - was discovered as early as the 1930s. Despite its early discovery, PKU remains a mysterious disease in several aspects, and patient-oriented research of this condition continues today. 

Clarke JTR (2006) A Clinical Guide to Inherited Metabolic Diseases. Cambridge University Press, Cambridge, UK, pp 1-338... 

The culture of embryonic fibroblasts is used to obtain enough cells to perform prenatal diagnosis of inherited metabolic diseases (Box 1-D). Tissue culture is easiest with embryonic or cancer cells, but many other tissues can be propagated. However, the cells that grow best and which can be propogated indefinitely are not entirely normal the well-known HeLa strain of human cancer cells which was widely grown for many years throughout the world contains 70-80 chromosomes per cell compared with the normal 46. 

An ever increasing number of disorders of intermediary metabolism are known which result from an inherited single enzyme defect [336-338]. Most of these are of autosomal recessive character and although the individual incidence of the homozygous state is low, the overall occurrence of inherited metabolic disease is much higher. 

GC-MS has been applied in many ways to investigations of inherited metabolic diseases but its use can be grouped into two broad, and to an extent overlapping, approaches. 

Smanik, E.J., Tavill, A.S., Jacobs, G.H., Schafer, I.A., Farquhar, L., Weher, F.L., Mayes, J.T., Schnlaik, JA., Petrelli, M., Zirzow, G.C., Oliver, K.L., Miller, S-PJ ., Brady, R.O. Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher s disease implications for the treatment of inherited metabolic disease. Hepatology 1993 17 42-49... 

M.S. Rashed, Clinical applications of MS-MS ten years of diagnosis and screening for inherited metabolic diseases, J. Chromatogr. B, 758 (2001) 27. 

Shnmonds HA. Purine and pyrimidine disorders. In Holton JB, ed. The Inherited Metabolic Diseases. Philadelphia Churchill Livingstone, 1994 297-350. 

Lactate in CSF normally parallels blood levels, but not in children. With biochemical alterations in the CNS, however, CSF lactate values change independently of blood values. Increased CSF concentrations are noted in cerebrovascular accidents, intracranial hemorrhage, bacterial meningitis, epilepsy, inborn errors of the electron transport chain, and other CNS disorders. In aseptic (viral) menmgitis, lactate concentrations in CSF are not usually increased hence, CSF lactate has been used to help discriminate between viral and bacterial meningitis,but the clinical utility has been questioned. In a few children with inherited metabolic diseases, CSF lactate concentrations may be increased despite a plasma lactate in the reference interval. 

Desnick, R. J., Treatment of inherited metabolic diseases Current status and prospects. In Genetic Disease—Diagnosis and Treatment (A. A. Dietz, ed.), pp. 183-259. The American Association for Clinical Chemistry, Washington, 1983. 

The amino acids L-phenylalanine and L-tyrosine are broken down via aromatic degradation pathways that are found in mammals and bacteria, to form organic acids that can be utilized for growth. These pathways are the only aromatic degradation pathways found in mammals, and are of some medical significance, since there are several inherited metabolic diseases (phenylketonuria, alkaptonuria, tyrosinemia) that are caused by mutations in enzymes in these pathways. 

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