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| content:alpha-feto_protein_serum [2020/02/16 20:47] – icna | content:alpha-feto_protein_serum [2020/02/16 20:53] – icna |
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| Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l. Postnatally [[https://ghr.nlm.nih.gov/gene/AFP|AFP gene]] expression is turned down with a subsequent fall of the serum concentrations to 'adult values' of about 0.5-15 μg/l from the age of 2 years onwards. Individuals with AFP deficiency and those with hereditary persistence of AFP can however be normal. During pregnancy, AFP (in maternal serum) has long been recognized as a marker for congenital anomalies of the fetus. AFP is also a biomarker for hepatocellular carcinoma and some other malignancies. | Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l. Postnatally [[https://ghr.nlm.nih.gov/gene/AFP|AFP gene]] expression is turned down with a subsequent fall of the serum concentrations to 'adult values' of about 0.5-15 μg/l from the age of 2 years onwards. Individuals with AFP deficiency and those with hereditary persistence of AFP can however be normal. During pregnancy, AFP (in maternal serum) has long been recognized as a marker for congenital anomalies of the fetus. AFP is also a biomarker for hepatocellular carcinoma and some other malignancies. |
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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 |
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| * **Classic Ataxia Telangiectasia** | * **Classic Ataxia Telangiectasia** |
