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METABOLIC DISORDERS (Albinism (signs and symptoms (Freckles, Moles, with…
METABOLIC DISORDERS
Albinism
pathophysiology
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that causes diffuse hypopigmentation of the skin, hair, and eyes
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Ocular involvement causes strabismus, nystagmus, and decreased vision.
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signs and symptoms
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Moles, with or without pigment
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Abnormal development of the retina, resulting in reduced vision
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alkaptonuria
pathophysiology
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haracteristically, the excess HGA means sufferers pass dark urine
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When you don’t produce enough HGD, homogentisic acid builds up in your body
signs and symptoms
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blue speckled discoloration of your skin, particularly around sweat glands
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hypertyrosinemia
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with TT1 requires an interdisciplinary,
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ing the tenets of family-centered care,
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