content:alpha-feto_protein_serum

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content:alpha-feto_protein_serum [2020/02/16 20:53] icnacontent:alpha-feto_protein_serum [2020/02/16 20:54] icna
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 Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], [[ataxia-oculomotor apraxia 2]] (AOA2), [[Deoxyguanosine Kinase Deficiency]](DGUOK) deficiency (hepatocerebral form of mtDNA depletion). Measurement of serum AFP is very useful in the diagnostic workup of [[autosomal recessive cerebellar ataxias]] (ARCAs). Increased serum AFP is a biomarker for [[Ataxia Telangiectasia]], [[ataxia-oculomotor apraxia 2]] (AOA2), [[Deoxyguanosine Kinase Deficiency]](DGUOK) deficiency (hepatocerebral form of mtDNA depletion). Measurement of serum AFP is very useful in the diagnostic workup of [[autosomal recessive cerebellar ataxias]] (ARCAs).
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-CSF AFP levels in normal infants also decline with gestational age in proportion to levels of AFP in serum[(:cite:PMID10612715>{{pubmed>short:10612715}})][(:cite:15802029>{{pubmed>short:15802029}})]. 
-  * median 61 kIU/L (5th-95th centile: 2-889 kIU/L) in infants -69 to 31 days old 
-  * median 1.2 kIU/L (5th-95th centile: 0.1-12.5 kIU/L) in infants 32 to 110 days old 
  
   * **Classic Ataxia Telangiectasia**   * **Classic Ataxia Telangiectasia**
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     * raised serum/csf lactate     * raised serum/csf lactate
  
-==== References ==== +CSF AFP levels in normal infants also decline with gestational age in proportion to levels of AFP in serum[(:cite:PMID10612715>{{pubmed>short:10612715}})][(:cite:15802029>{{pubmed>short:15802029}})]. 
-~~REFNOTES~~+  * median 61 kIU/L (5th-95th centile: 2-889 kIU/L) in infants -69 to 31 days old 
 +  * median 1.2 kIU/L (5th-95th centile: 0.1-12.5 kIU/L) in infants 32 to 110 days old
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