Search Login Register
Hartnup Disease
Summary
33
relevant articles (1 outcomes,
3 trials/studies)
found for this Disease
Description:
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.
Also Known As:
Neutral Amino Acid Transport Defect; Transport Disorder, Neutral Amino Acids; Amino Acid Transport Disorder, Neutral; Neutral Amino Acid Transport Disorder; Transport Disorder, Neutral Amino Acid
Key Drugs and Agents for Hartnup Disease
Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
-
tryptophan ethyl ester
:
1 outcome in 1 result
: IBA
-
Amino Acids
:
2 studies in 13 results
:
FDA 53
-
Tryptophan (L-Tryptophan)
:
1 study in 9 results
:
FDA 30
-
Diamond
:
1 study in 1 result
: IBA
-
Transferases
:
1 study in 1 result
: IBA
-
Carnitine (L-Carnitine)
:
1 study in 1 result
:
FDA 9
Generic
-
Niacin (Nicotinic Acid)
:
4 results
:
FDA 21
Generic
-
Peptides
:
3 results
: IBA
-
indole
:
3 results
: IBA
-
Oligopeptides
:
2 results
: IBA
Show All >>
Diseases Related to Hartnup Disease
-
Syndrome
-
Tyrosinemias (Tyrosinemia)
-
Citrullinemia
-
Maple Syrup Urine Disease
-
Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome)
Show All >>
Key Therapies for Hartnup Disease
Efficacy Chart >>
CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
© Copyright 2003-2008 CureHunter Inc., MeSH copyright NLM, Journal Articles copyright original owners.