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Hartnupova choroba

Subject h.	Hartnupova choroba
Subject h.	Hartnup Disease
Entry terms	porucha transportu neutrálnych aminokyselín Hartnupových choroba Hartnupov syndróm
English X references	Amino Acid Transport Disorder, Neutral Neutral Amino Acid Transport Disorder Transport Disorder, Neutral Amino Acid
Scope note in English	An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
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