1mmt: Difference between revisions

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-[[Image:1mmt.png|left|200px]]
 {{STRUCTURE_1mmt|  PDB=1mmt  |  SCENE=  }}
 ===Crystal structure of ternary complex of the catalytic domain of human phenylalanine hydroxylase (Fe(II)) complexed with tetrahydrobiopterin and norleucine===
+{{ABSTRACT_PUBMED_14568534}}
-{{ABSTRACT_PUBMED_14568534}}
+==Disease==
+[[http://www.uniprot.org/uniprot/PH4H_HUMAN PH4H_HUMAN]] Defects in PAH are the cause of phenylketonuria (PKU) [MIM:[http://omim.org/entry/261600 261600]]. PKU is an autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor.<ref>PMID:8594560</ref><ref>PMID:2840952</ref><ref>PMID:2564729</ref><ref>PMID:2615649</ref><ref>PMID:1975559</ref><ref>PMID:1671810</ref><ref>PMID:2014802</ref><ref>PMID:1672294</ref><ref>PMID:1672290</ref><ref>PMID:1679030</ref><ref>PMID:1709636</ref><ref>PMID:1355066</ref><ref>PMID:1363837</ref><ref>PMID:1363838</ref><ref>PMID:8406445</ref><ref>PMID:8068076</ref><ref>PMID:7833954</ref><ref>PMID:8889583</ref><ref>PMID:8889590</ref><ref>PMID:9048935</ref><ref>PMID:9101291</ref><ref>PMID:9521426</ref><ref>PMID:9600453</ref><ref>PMID:10200057</ref><ref>PMID:9452061</ref><ref>PMID:9452062</ref><ref>PMID:9792407</ref><ref>PMID:9792411</ref><ref>PMID:9950317</ref><ref>PMID:10679941</ref><ref>PMID:11326337</ref><ref>PMID:11180595</ref><ref>PMID:11385716</ref><ref>PMID:11461196</ref><ref>PMID:12501224</ref><ref>PMID:18538294</ref><ref>PMID:22526846</ref><ref>PMID:22513348</ref>  Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:[http://omim.org/entry/261600 261600]]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.  Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:[http://omim.org/entry/261600 261600]]. HPA is the mildest form of phenylalanine hydroxylase deficiency.<ref>PMID:9521426</ref><ref>PMID:11385716</ref><ref>PMID:12501224</ref><ref>PMID:1358789</ref><ref>PMID:8098245</ref><ref>PMID:8088845</ref><ref>PMID:9852673</ref><ref>PMID:11935335</ref>
 ==About this Structure==
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 ==Reference==
-<ref group="xtra">PMID:014568534</ref><references group="xtra"/>
+<ref group="xtra">PMID:014568534</ref><references group="xtra"/><references/>
 [[Category: Homo sapiens]]
 [[Category: Phenylalanine 4-monooxygenase]]