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Doença de Hartnup
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Definição:
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.
Sinônimos:
Transtorno do Transporte de Aminoácidos Neutros /
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