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How is Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 diagnosed?
See how Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1 is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Glutaryl-CoA dehydrogenase deficiency / Glutaric aciduria type 1
Translated from spanish
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The diagnosis before they have symptoms, you can get through the screening implemented in some countries, is detected by the alteration of the glutarilcarnitina C5D5; that has to be checked with a new analysis and determination of acid glutárico and 3-OH-glutárico in urine (there are people high excretory and other low-excretory acid glutárico).
For the diagnosis definitvo is carried out the genetic analysis that will confirm the mutations of the gene.
The diagnosis can be performed when it is suspected by symptoms or signs, supported by alterations neuroradiológicas.
Sometimes, children apparently healthy, suffer a crisis of metabolic and after she is diagnosed of this disease.
For the diagnosis definitvo is carried out the genetic analysis that will confirm the mutations of the gene.
The diagnosis can be performed when it is suspected by symptoms or signs, supported by alterations neuroradiológicas.
Sometimes, children apparently healthy, suffer a crisis of metabolic and after she is diagnosed of this disease.
Posted Oct 31, 2017 by Helena 6050
