Disease Information for Hartnup disease: Disease Mechanism & Classification

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Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Heterozygous/recessive silent/clinically
Pathophysiology/Monoamino/carboxylic/transaminase/def
Pathophysiology/Niacin from tryptophane/metabolic block
Pathophysiology/Tryptophane/indole metabolism defect
Pathophysiology/Aminoacid gut transport failure/specific
Pathophysiology/Malabsorption tryptophane/phenylalanine
Pathophysiology/Absent descending limb/loop of Henle
Pathophysiology/Aminoacid transport failure/renal
Pathophysiology/Serotonin cellular release
Pathophysiology/Serotonin Melatonin Niacin precursor
Pathophysiology/SLC6A19 Gene Mutation
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Deficiency (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
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