Počet záznamov: 1

Hartnupova choroba

Heslo	Hartnupova choroba
Heslo anglicky	Hartnup Disease
Odkazy	porucha transportu neutrálnych aminokyselín Hartnupových choroba Hartnupov syndróm
Angl. X odkazy	Amino Acid Transport Disorder, Neutral Neutral Amino Acid Transport Disorder Transport Disorder, Neutral Amino Acid
Vysvetľujúca pozn. v angl.	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.
Odkazy	(1) - ČLÁNKY
	(1) - heslo MeSH
	(1) - KNIHY

predmetové heslo

Počet záznamov: 1