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Hartnup Disease
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Definition:
An autosomal recessive disorder due to defective absorption of by both the intestine and the . The abnormal urinary loss of , a precursor of , leads to a deficiency, PELLAGRA-like light-sensitive rash, , emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Synonym(s):
Amino Acid Transport Disorder, Neutral /
Neutral Amino Acid Transport Disorder /
Transport Disorder, Neutral Amino Acid /
Neutral Amino Acid Transport Defect /
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