Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0240066 (iron deficiency)
 7,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Postmortem human brain analyses have been performed to further evaluate pathogenetic aspects of the Rett syndrome. While there are no significant abnormalities with respect to amino acid concentrations in putamen, caudate nucleus, red nucleus and thalamus, the concentration of kynurenine is increased in putamen, caudate nucleus, gl. pallidus, raphe and amygdaloid n. In contrast, serotonin and its metabolite 5-hydroxyindole acetic acid are below normal levels. D2-receptor number is decreased and there is a significant drop in the concentration of the iron-binding protein ferritin. It can be concluded, that reduction of D2-receptors is due to loss of cholinergic and GABA-ergic cell bodies in the striatum or may be a response to iron deficiency. Low serotonergic and high kynurenergic activity may be of pathogenetic importance in the frequently observed cerebral seizures in Rett syndrome.
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PMID:Preliminary brain autopsy findings in progredient Rett syndrome. 308 91

Low ferritin content in putamen and frontal cortex found in a postmortem study in a single case of Rett syndrome prompted measurement of iron-related parameters in blood. Serum ferritin, serum iron and transferrin were evaluated in 27 patients with classical Rett syndrome. Signs of iron deficiency and depletion of body iron stores were found in 20% of probands aged up to 6 years and in 37% older than 14 years. This result is in accordance with figures from the normal female population and therefore a linkage between iron depletion in brain and depleted iron stores could not be proven.
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PMID:Serum iron status in Rett syndrome. 343 31