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Aminoaciduria
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FANCONI SYNDROME
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HARTNUP DISEASE
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Generalized aminoaciduria
Including: ARGININE, PROLINE, HYDROXYPROLINE
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Only neutral AA in urine
NO: Arginine, Proline, Hydroxyproline
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Alanine, Serine, Threonine, Tyrosine, Tryptophan, Histidine, Valine, Leucine, Isoleucine, Phenylalanine
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Proximal Renal Tubular:
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Acidosis (loss of bicarbonate in Urine)
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Aminoaciduria
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Phosphaturia
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Glucosuria
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Aminoaciduria
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Renal & Intestinal Tryptophan absorption
defect
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Pelagra like + ATAXIA + Photosensibilidad
(Dermatitis, Diarrhea,
Dementia)
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Friday, January 27, 2012
Aminoaciduria
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