Metabolic diseases with single gene mode of inheritance - Review

Rajangam, Sayee; Bijoor, Anitha
May 2007
Perinatology: Journal of Perinatal & Neonatal Care;May/Jun2007, Vol. 9 Issue 3, p143
Academic Journal
The article focuses on the review of metabolic or biochemical diseases which is demonstrated as Single gene mode of inheritance. It stated that most of the inborn errors of metabolism (IEM) belong to autosomal (AR) or X-linked recessive (X-LR) modes of inheritance. Furthermore the disorders in IEM that affects the mitochondrial function and glutaric acidurias includes aminoacid metabolic disorders and urea cycle disorder.


Related Articles

  • METABOLIC DISORDERS. Chappell, Thomas // Ability Magazine;Aug/Sep2013, p49 

    The article offers information on metabolic disorders. The process of metabolism is explained. It notes that the production of chemicals in the human body is determined by genes which is the reason why genetic disorders are referred to as inborn errors of metabolism (IEMs). Genetic disorders...

  • Information from Your Family Doctor. Hereditary Hemochromatosis.  // American Family Physician;3/1/2002, Vol. 65 Issue 5, p865 

    Presents information on hereditary hemochromatosis, a health problem that is passed from parents to children where the body stores too much iron. Causes of the disease; Other causes of iron overload; How a doctor diagnoses hemochromatosis; Treatment options.

  • Disease frequency of Inborn Errors of Metabolism in the Irish Traveller Community. Murphy, A. M. // Ulster Medical Journal;2008, Vol. 77 Issue 1, p69 

    The frequency of Inherited Metabolic Disorders (IEMs) varies between ethnic groups, reflecting founder effect, genetic isolation, and the potential effects of consanguinity. These disorders are a major cause of morbidity and mortality in "Irish Travellers", an endogamous group of nomads who...

  • metabolic disorder treatment (Major drug group).  // Royal Society of Medicine: Medicines;2002, p356 

    The article presents information on metabolic disorder treatment drugs or dietary supplements. These drugs can be used to correct defects in the metabolism of the body, some of them due to inborn errors of metabolism usually caused by an inherited defective enzyme. Some of these drugs are...

  • Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Fingerhut, Ralph; Olgemöller, Bernhard // Analytical & Bioanalytical Chemistry;Mar2009, Vol. 393 Issue 5, p1481 

    Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis. However, every expansion of the screening panel requires critical review,...

  • metabolism, inborn errors of. Peters, Michael // BMA A-Z Family Medical Encyclopedia;2004, p503 

    An encyclopedia entry for "inborn errors of metabolism" is presented. It refers to inherited defects of body chemistry. These errors of metabolism are caused by single gene defects, which result in an abnormal functioning of an enzyme. The entry also discusses the symptoms, diagnosis and...

  • Secondary psychosis induced by metabolic disorders. Tordjman, Sylvie; Walterfang, Mark; Bonnot, Olivier; Herrera, Paula M. // Frontiers in Cellular Neuroscience;May2015, p1 

    Metabolic disorders are not well-recognized by psychiatrists as a possible source of secondary psychoses. Inborn errors of metabolism (IEMs) are not frequent. Although their prompt diagnosis may lead to suitable treatments. IEMs are well-known to pediatricians, in particular for their most...

  • Genomic imprinting disorders in humans: a mini-review. Butler, Merlin G. // Journal of Assisted Reproduction & Genetics;Sep/Oct2009, Vol. 26 Issue 9/10, p477 

    Mammals inherit two complete sets of chromosomes, one from the father and one from the mother, and most autosomal genes are expressed from both maternal and paternal alleles. Imprinted genes show expression from only one member of the gene pair (allele) and their expression are determined by the...

  • Metabolic Epilepsies: Approaches to a Diagnostic Challenge. Stöckler-Ipsiroglu, Sylvia; Plecko, Barbara // Canadian Journal of Neurological Sciences;Aug2009 Supplement 2, Vol. 36, pS67 

    Although inborn errors of metabolism (IEM) are a relatively rare cause of epilepsy in children, their diagnosis is important with respect to treatment, prognosis and genetic counselling. In addition to seizures and epilepsy, IEM may produce a complex clinical picture in which epilepsy is only...

  • Early Onset of Lysosomal Storage Disease in a Murine Model of Mucopolysaccharidosis Type VII: Undegraded Substrate Accumulates in Many Tissues in the Fetus and Very Young MPS VII Mouse. Vogler, Carole; Levy, Beth; Galvin, Nancy; Lessard, Mark; Soper, Brian; Barker, Jane // Pediatric & Developmental Pathology;Jul/Aug2005, Vol. 8 Issue 4, p453 

    Lysosomal storage diseases (LSDs), due to deficiency of a lysosomal enzyme, are inherited, progressive disorders that are often fatal during childhood. The mucopolysaccharidoses (MPS) are LSDs caused by deficiency of a lysosomal enzyme needed for the stepwise degradation of glycosaminoglycans. A...


Read the Article


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

Try another library?
Sign out of this library

Other Topics