Inherited Enzyme Deficiencies Flashcards
1
Q
Leach-Nyhan Syndrome
A
X-linked recessive HGPRT deficiency - Hypoxanthine guanine phosphoribosyltransferase - Tx: Febuxostat/allopurinol
H - hyperuricemia
G - Gout
P - Pissed off (aggression, self-mutilation)
R - Retardation (intellectual disability)
T - dystonia
First aid (2017): pg. 34
