Unusually high levels of malonic acid in the urine is often an indication of a genetic disorder known as malonic aciduria. |
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Similarly, a devastating disorder called glutaric aciduria was traced to an amino acid problem, with a treatment devised to reduce the risk of brain damage. |
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Conditions for which this effect has been demonstrated are: glutaric aciduria II, methyl malonic aciduria, propionic acidemia, and medium chain fatty acylCoA dehydrogenase deficiency. |
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But the tot had an inherited disorder called argininosuccinic aciduria that causes ammonia to accumulate in the blood. |
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Extreme overexposure may cause glycosuria, proteinuria, and aciduria. |
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The NHS Newborn Blood Spot Screening programme will be expanded to screen for homocystinuria, maple syrup urine disease, glutaric aciduria type 1 and isovaleric acidaemia. |
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A syndrome of methylmalonic aciduria, homocysteine, megaloblastic anemia and neurologic abnormalities in a vitamin B12 deficient breast-fed infant of a strict vegetarian. |
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Harry Vyse aged 12 from Staffordshire has Glutaric Aciduria Type 1, a progressive genetic disorder. |
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Now his DNA and blood samples have been sent to a laboratory to assess if the youngster has the rare disorder, Methyl 3 Hydroxybutyric Aciduria. |
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Ten long days later, Gareth was diagnosed with a genetic condition called Arginosuccinic Aciduria, so rare that it affects only one in 77,000 people. |
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It is the result of the genetic condition Argininosuccinic Aciduria. |
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