– Patient instructions
• No bananas, pineapples, tomatoes,
Tryptophan Disorders
• Increased urinary excretion of the
metabolites indican and 5-
hydroxyindoleacetic acid (5-HIAA)
 Indicanuria
• Tryptophan enters intestine, is reabsorbed
or is converted to indole by bacteria, and
leaves in the feces
• Intestinal disorders and Hartnup disease
cause increased tryptophan conversion to
indole
• Increased indole reabsorbed, excreted by
kidney on its way to the liver
• Exposure of urine to air = indigo blue
• Hartnup disease: blue diaper syndrome
• Inherited disorder affects intestinal
reabsorption of indole and renal
tubular reabsorption = Fanconi
syndrome
• Requires dietary supplements: niacin
 5-Hydroxyindoleacetic Acid (5-
HIAA)
• Tryptophan produces serotonin
• Serotonin from tryptophan is produced by
the intestinal argentaffin cells and is carried
in the body to the muscles by platelets
• Excess excreted in the urine as 5-HIAA
• Argentaffin (enterochromaffin) cell tumors =
↑ ↑ 5-HIAA in urine from excess serotonin
produced
• Urine test
– Nitrous acid and 1-nitroso-2-naphthol
produce purple to black color
– Normal 2 to 8 mg/day, >25 mg/day in
disease
– Can perform test on random specimens
phenothiazines, and acetanilids for
72 hours
• 24-hour urine samples must be
preserved with HCl or boric acid
Cystine Disorders
• Two different disorders; both have
noticeable odor of sulfur
 Cystinuria
– Inherited disorder affecting renal
reabsorption
– Two modes of inheritance: (1) only cystine
and lysine are not reabsorbed; (2) cystine,
lysine, arginine, and ornithine are not
reabsorbed
– Increased calculi formation early in life for
both modes
– Approximately 65% of the people in whom
all four amino acids are affected can be
expected to produce calculi early in life
– Cystine is the least soluble accounting for
cystine crystals
– Cystine is also the only amino acid found
during the analysis of calculi from these
patients
– Urine screening test: cyanide-
nitroprusside
– Na cyanide reduces cystine, and
nitroprusside produces a red-purple color
if excess cystine is present
– False-positives: ketonuria, homocystinuria
 Cystinosis
• Genuine IEM
• Ranging from a severe fatal disorder
developed in infancy to a benign form
appearing in adulthood
• Two categories
– Nephropathic
• Infantile
• Later life
– Non-nephropathic
• Defect in lysosomal membranes prevents
release of cystine into cytoplasm for
metabolism = crystalline cystine deposits in
body
• Deposits: cornea, bone marrow, lymph
nodes, organs
• Renal tubules are affected by deposits
causing Fanconi syndrome, which is not
inherited
• Infantile: rapid progression to renal failure
• Late-onset: gradual progression to renal
failure