Hartnup disease: tryptophan deficit
Hartnup disease is a congenital disorder characterized by a defect in the renal and intestinal transport of neutral amino acid, especially tryptophan.
It has autosomal recessive inheritance, and it is associated with a mutation in the SLC6A19 gene.
Pathophysiology
Impaired sodium-dependent neutral amino acid transporter on enterocytes and proximal renal tubular cells leads to decreased renal and intestinal absorption of tryptophan.
The body cannot synthesize vitamin B3 (niacin) and serotonin in absence of tryptophan.
Clinical features
Sign and symptoms of vitamin B3 deficiency presents as pellagra-
Pellagra: dermatitis, glossitis, diarrhea, dementia
Serotonin deficiency causes neurological problems like dementia and Cerebellar ataxia
Diagnosis
Increased neutral amino acids in urine (neutral aminoaciduria)
Treatment
High-protein diet
Niacin supplementation
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