Inherited metabolic disease

April 2007
Archives of Disease in Childhood;Apr2007 Supplement, Vol. 92, pA91
Academic Journal
The article presents abstracts on inherited metabolic disease. They include "A High Diagnostic Yield in Children Attending a Metabolic Center with Developmental Delay," "Audit of Muscle Biopsy in Infants Under 12 Months in a Tertiary Metabolic/Neurology Center," and "Short Chain Acyl-Coenzyme A Dehydrogenase Deficiency: A Clinical Chameleon."


Related Articles

  • New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Sass, Jörn Oliver; Nakanishi, Toyofumi; Sato, Takako; Shimizu, Akira // Annals of Clinical Biochemistry;Mar2004, Vol. 41 Issue 2, p157 

    Background: Molybdenum cofactor deficiency (resulting in combined deficiencies of the enzymes sulphite oxidase, xanthine dehydrogenase and aldehyde dehydrogenase) and isolated sulphite oxidase deficiency are inherited metabolic diseases which follow an autosomal recessive trait of inheritance....

  • PERSISTENT CRYING WORRIES GRANDPARENT.  // Exceptional Parent;Nov2005, Vol. 35 Issue 11, p12 

    The article focuses on persistent crying of a child with mitochondrial metabolic disorder. The girl is diagnosed with pyruvate dehydrogenase deficiency.

  • Readjusting the Glucocorticoid Balance: An Opportunity for Modulators of 11� -Hydroxysteroid Dehydrogenase Type 1 Activity? Atanasov, Atanas G.; Odermatt, Alex // Endocrine, Metabolic & Immune Disorders - Drug Targets;Jun2007, Vol. 7 Issue 2, p125 

    Glucocorticoids play a pivotal role in the regulation of most essential physiological processes, including energy metabolism, maintenance of electrolyte balance and blood pressure, immune-modulation and stress responses, cell proliferation and differentiation, as well as regulation of memory and...

  • L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. Penderis, Jacques; Calvin, Jacqul; Abramson, Carley; Jakobs, Cornelis; Pettitt, Louise; Binns, Matthew M.; Verhoeven, Nanda M.; O'Driscoll, Eamonn; Platt, Simon R.; Mellersh, Cathryn S. // Journal of Medical Genetics;May2007, Vol. 44 Issue 5, p334 

    L-2-hydroxyglutaric aciduria (L-2-HGA) is a neurometabolic disorder that produces a variety of clinical neurological deficits, including psychomotor retardation, seizures and ataxia. The biochemical hallmark of L-2-HGA is the accumulation of L-2-hydroxyglutaric acid (1-2-HG) in cerebrospinal...

  • Induction of S100B secretion in C6 astroglial cells by the major metabolites accumulating in glutaric acidemia type I. Quincozes-Santos, André; Rosa, Rafael Borba; Leipnitz, Guilhian; De Souza, Daniela Fraga; Seminotti, Bianca; Wajner, Moacir; Gonçalves, Carlos Alberto // Metabolic Brain Disease;Jun2010, Vol. 25 Issue 2, p191 

    Glutaryl-CoA dehydrogenase deficiency or glutaric acidemia type I (GA I) is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of predominantly glutaric (GA) and 3-hydroxyglutaric (3OHGA) acids and clinically by severe neurological symptoms and structural...

  • Liver transplantation in maple syrup urine disease. Wendel, U.; Saudubray, J. M.; Bodner, A.; Schadewaldt, P. // European Journal of Pediatrics;1999, Vol. 158 Issue 14, pS060 

    Abstract Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxoacid dehydrogenase complex (BCOA-DH) causes accumulation of branched-chain L-amino (BCAA) and 2-oxoacids (BCOA) which may exert neurotoxic effects. Treatment comprises...

  • Omeprazole and refractory hypomagnesaemia. Shabajee, N.; Lamb, E. J.; Sturgess, I.; Sumathipala, R. W. // BMJ: British Medical Journal (International Edition);7/19/2008, Vol. 337 Issue 7662, p173 

    The article presents an overview of hypomagnesemia, a condition which is common in hospital patients and is often accompanied by other electrolyte abnormalities such as hypocalcemia, hypokalemia and hypophosphatemia. A discussion of the role omeprazole may play in the development of the...

  • A New Diagnostic Approach to the Dubin-Johnson Syndrome. Pinós, Tomás; Constansa, José M.; Palacin, Antonio; Figueras, Concepción // American Journal of Gastroenterology;Jan1990, Vol. 85 Issue 1, p91 

    Dubin-Johnson syndrome (DJS), a congenital metabolic disorder of bilirubin excretion, was classically diagnosed by the bromsulfalein (BSP) curve and needle hepatic biopsy methods. We present three cases of DJS and propose a new diagnostic approach which could conceivably become a substitute for...

  • Skeletal mineralization defects in adult hypophosphatasia-a clinical and histological analysis. Barvencik, F.; Beil, F. Timo; Gebauer, M.; Busse, B.; Koehne, T.; Seitz, S.; Zustin, J.; Pogoda, P.; Schinke, T.; Amling, M. // Osteoporosis International;Oct2011, Vol. 22 Issue 10, p2667 

    Summary: Histomorphometry and quantitative backscattered electron microscopy of iliac crest biopsies from patients with adult hypophosphatasia not only confirmed the expected enrichment of non-mineralized osteoid, but also demonstrated an altered trabecular microarchitecture, an increased number...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics