Hartnup disorder

Hartnup's disease Molecular medicine An AR inborn defect in tryptophan metabolism caused by a defect in intestinal brush-border amino acid transport Clinical Photosensitivity, ataxia, emotional lability, aminoaciduria

Patient discussion about Hartnup disorder

Q. please: send me information about sexual power medicine. i have hart operation 6 month ago. thanks atte caiman

A. most problems there are psychological more then physiological. i would try there. there's also a row of alternative treatments you can try, like biofeedback and acupuncture. try them and let me know ;)

More discussions about Hartnup disorder

Mentioned in ?

Hartnup disease

References in periodicals archive ?

Mutations in SLC6A19, encoding BOAT1, cause Hartnup disorder. Nat Genet 2004;36: 999-1002.

A 9-month-old boy with seizures and discrepant urine tryptophan concentrations

Among the abnormal samples were the following: 14 with propionic acidemia; 11 with methylmalonic aciduria; 11 with cystinuria; 6 with alkaptonuria; 4 with glutaric aciduria I; 3 each with pyruvate decarboxylase deficiency, ketosis, Hartnup disorder, cystinosis, neuroblastoma, phenylketonuria, ethanol toxicity, glycerol kinase deficiency, and hydroxymethylglutaryl-CoA-lyase deficiency; and 2 with carbamoylphosphate synthetase deficiency.

Magnetic resonance diagnostics: a new technology for high-throughput clinical diagnostics

Finally, many of the disorders identified in urine, such as histidinemia, iminoglycinuria, and Hartnup disorder, are benign (4).