1
Q
DEFECT in LESCH-NYHAN SYNDROME
A
Absence of the gene that code for the enzyme HPRT (Hypoxanthine guanine phosphoribosyl transferase)
2
Q
FINDINGS
A
“ORANGE SAND IN DIAPER” due to increase levels of uric acid in the blood and urine
CLINICAL MICROSCOPY
flashcards
Decks in class (13)
# Cards
-
RENAL CALCULI19
-
INTERSTITIAL DISORDERS0
-
TUBULAR DISORDERS8
-
PORPHYRIAS13
-
CARBOHYDRATE DISORDERS8
-
CYSTINE DISORDERS6
-
PURINE DISORDERS2
-
MUCOPOLYSACCHARIDE DISORDERS7
-
TRYPTOPHAN DISORDERS10
-
BRANCHED-CHAIN AMINO ACID DISORDERS7
-
PHENYLALANINE-TYROSINE DISORDERS18
-
HUMAN CHORIONIC GONADOTROPIN5
-
SWEAT8
