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What is Massive aminoaciduria without a corresponding increase in plasma amino acid level is characteristic of which one of the following diseases ? and explain in detail?
Hanup disease (also known as "pellagra-like dermatosisand "Hanup disorder") is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids (paicularly tryptophan that can be, in turn, conveed into serotonin, melatonin, and niacin). Niacin is a precursor to nicotinamide, a necessary component of NAD+ The causative gene, SLC6A19, is located on chromosome 5.It is named after the English family, Hanup, who suffered from this disease. Reference: GHAI Essential pediatrics, 8th edition