Related MeSH Hierarchy (10)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Hartnup Disease
Diseases [C] » Urogenital Diseases [C12] » Female Urogenital Diseases and Pregnancy Complications » Female Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Hartnup Disease
Diseases [C] » Urogenital Diseases [C12] » Male Urogenital Diseases » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Hartnup Disease
Diseases [C] » Urogenital Diseases [C12] » Urologic Diseases » Kidney Diseases » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Hartnup Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Transport Disorders, Inborn » Hartnup Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hartnup Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Renal Tubular Transport, Inborn Errors » Renal Aminoacidurias » Hartnup Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Hartnup Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Transport Disorders, Inborn » Hartnup Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Hartnup 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. MeSH
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