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- Sepiapterin_reductase_deficiency abstract "Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but due to a lack of overall awareness and a series of atypical procedures used to diagnose this condition pose a dilemma.".
- Sepiapterin_reductase_deficiency wikiPageExternalLink sepiapterin-reductase-deficiency.
- Sepiapterin_reductase_deficiency wikiPageExternalLink SPR.htm.
- Sepiapterin_reductase_deficiency wikiPageExternalLink Sepiapterin_reductase_deficiency.aspx.
- Sepiapterin_reductase_deficiency wikiPageExternalLink CHILDx%202009%20Hyland.pdf.
- Sepiapterin_reductase_deficiency wikiPageExternalLink What_Are_PNDs.htm.
- Sepiapterin_reductase_deficiency wikiPageID "37691693".
- Sepiapterin_reductase_deficiency wikiPageRevisionID "603146703".
- Sepiapterin_reductase_deficiency hasPhotoCollection Sepiapterin_reductase_deficiency.
- Sepiapterin_reductase_deficiency subject Category:Neuroscience.
- Sepiapterin_reductase_deficiency subject Category:Neurotransmitters.
- Sepiapterin_reductase_deficiency subject Category:Pediatrics.
- Sepiapterin_reductase_deficiency comment "Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures.".
- Sepiapterin_reductase_deficiency label "Sepiapterin reductase deficiency".
- Sepiapterin_reductase_deficiency sameAs m.0ndws3b.
- Sepiapterin_reductase_deficiency sameAs Q17156923.
- Sepiapterin_reductase_deficiency sameAs Q17156923.
- Sepiapterin_reductase_deficiency wasDerivedFrom Sepiapterin_reductase_deficiency?oldid=603146703.
- Sepiapterin_reductase_deficiency isPrimaryTopicOf Sepiapterin_reductase_deficiency.