Sandbox Reserved 771: Difference between revisions

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==~~Chronic Lung Infections Caused by Alterations to~~ Glutathione ~~Synthesis~~==

==Glutathione Deficiency Syndrome==

Though reduced levels of GSH have been observed in patients with Alzheimers and Parkinsons, inborn errors in the endogenous GSS enzyme resulting in significantly low levels of GSH is believed to be the cause of a metabolic deficiency termed 5-oxoprolinuria.

Though reduced levels of GSH have been observed in patients with Alzheimers and Parkinsons, inborn errors in the endogenous GSS enzyme resulting in significantly low levels of GSH is believed to be the cause of a very rare metabolic deficiency in which there is a large build up of 5-oxoproline in the urine - termed 5-oxoprolinuria. It is so rare that, as of 2006, it had been diagnosed in less than 100 people worldwide.

GSH deficiency has been sub-divided into three forms: Mild, Moderate, and Severe. Mild deficiencies usually result in what is known as hemolytic anemia, and is a result of the degradation of red blood cells. Rarely, mild GSH deficiencies can result in 5-oxoprolinuria. More moderate GSS deficiencies will result in a higher likelihood of developing 5-oxoprolinuria, hemolytic anemia, and metabolic acidosis - a condition in which the blood pH is lower than the homeostatic pH of 7 - shortly after birth. Finally, individuals with severe GSH deficiencies experience severe neurological symptoms in addition to those associated with moderate GSH deficiencies. Slowed physical movements, reactions, and speech, as well as intellectual retardation and a loss of coordination are those frequently associated with severe GSH deficiency.

Studies suggest that the rarity of this disorder can be attributed to the fact it is autosomal recessive and thus both copies of the cell's chromosome must contain the genetic coding for the disorder. Each of the parents must carry a single copy of the mutated <i>gss gene, thus displaying no physical symptoms, and both must pass their mutated copy on to the child.

</StructureSection>

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@@ Line 53: / Line 53: @@
-==Chronic Lung Infections Caused by Alterations to Glutathione Synthesis==
+==Glutathione Deficiency Syndrome==
-Though reduced levels of GSH have been observed in patients with Alzheimers and Parkinsons, inborn errors in the endogenous GSS enzyme resulting in significantly low levels of GSH is believed to be the cause of a metabolic deficiency termed 5-oxoprolinuria.
+Though reduced levels of GSH have been observed in patients with Alzheimers and Parkinsons, inborn errors in the endogenous GSS enzyme resulting in significantly low levels of GSH is believed to be the cause of a very rare metabolic deficiency in which there is a large build up of 5-oxoproline in the urine - termed 5-oxoprolinuria. It is so rare that, as of 2006, it had been diagnosed in less than 100 people worldwide.
+GSH deficiency has been sub-divided into three forms: Mild, Moderate, and Severe. Mild deficiencies usually result in what is known as hemolytic anemia, and is a result of the degradation of red blood cells. Rarely, mild GSH deficiencies can result in 5-oxoprolinuria. More moderate GSS deficiencies will result in a higher likelihood of developing 5-oxoprolinuria, hemolytic anemia, and metabolic acidosis - a condition in which the blood pH is lower than the homeostatic pH of 7 - shortly after birth. Finally, individuals with severe GSH deficiencies experience severe neurological symptoms in addition to those associated with moderate GSH deficiencies. Slowed physical movements, reactions, and speech, as well as intellectual retardation and a loss of coordination are those frequently associated with severe GSH deficiency.
+Studies suggest that the rarity of this disorder can be attributed to the fact it is autosomal recessive and thus both copies of the cell's chromosome must contain the genetic coding for the disorder. Each of the parents must carry a single copy of the mutated <i>gss gene, thus displaying no physical symptoms, and both must pass their mutated copy on to the child.
 </StructureSection>