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content:alpha-feto_protein_serum [2020/02/16 20:06] – icna | content:alpha-feto_protein_serum [2022/04/30 11:54] (current) – changed pubmed syntax administrator@icnapedia.org | ||
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====== Alpha-Feto protein, serum ====== | ====== Alpha-Feto protein, serum ====== | ||
- | <alert type=" | ||
{{tag> | {{tag> | ||
==== Indications ==== | ==== Indications ==== | ||
- | * [[ataxic ' | + | * any type of movement disorder in early childhood, cerebellar ataxias, [[oculomotor apraxia]](saccadic impairment) |
==== Notes ==== | ==== Notes ==== | ||
- | Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l Postnatally AFP gene expression is turned down with a subsequent fall of the serum concentrations to 'adult values' | + | Alpha-fetoprotein (AFP) is present in fetal serum in concentrations up to 5,000,000 μg/l. Postnatally |
- | Increased serum AFP is a biomarker for Ataxia Telangiectasia, | + | 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 |
- | + | ||
- | <table label> | + | * **Classic Ataxia Telangiectasia** |
- | ^ Age group ^ Disorder (gene) | + | * Infancy/ |
- | | Infancy/ | + | * ↑ AFP levels 100–900 |
- | | | AOA1 (APTX) | + | * in Variant |
- | | | Mitochondrial disorders (POLG and C10orf2) | + | * other laboratory markers include immunoglobulins, liver transaminases, |
- | | Adolescence/adulthood | + | * **Ataxia with Oculomotor Apraxia Type 1 (AOA1)** |
- | | | AOA2 (SETX) | + | |
- | | | AOA2 (PIK3R5) | + | *AFP 10-20 μg/l. ↑ AFP seen only in exceptional cases[(: |
- | | | AOA2 (none-SETX/ | + | |
- | | | Mitochondrial disorders (POLG and C10orf2) | + | * Adolescence/ |
- | < | + | * AFP 10–100 |
- | </table> | + | * ↑ Serum Creatine kinase |
- | ==== References ==== | + | |
- | ~~REFNOTES~~ | + | * Adolescence/ |
+ | * AFP 30–100 | ||
+ | * ↑ Serum Creatine kinase | ||
+ | | ||
+ | * Adolescence/ | ||
+ | * ↑ Serum Creatine kinase | ||
+ | * **Mitochondrial disorders ([[https:// | ||
+ | * infancy/ | ||
+ | * raised | ||
+ | |||
+ | CSF AFP levels in normal infants also decline with gestational age in proportion to levels of AFP in serum[(:cite:PMID10612715>{{pmid>long:10612715}})][(: | ||
+ | * 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 |