Arginase deficiency with new phenotype and a novel mutation: contemporary summary
JPK Tsang, WL Poon, HM Luk, CW Fung, CK Ching… - Pediatric …, 2012 - Elsevier
In areas without expanded newborn screening, instead of presenting neonatally, patients
with arginase deficiency typically present with spastic paraplegia in early childhood.
Diagnosis of this rare neurometabolic disease poses the first challenge because it is often
misdiagnosed as cerebral palsy during initial stages. We describe arginase deficiency in a
20-year-old woman with spastic paraplegia, progressive dystonia, dementia, peripheral
neuropathy, epilepsy, liver cirrhosis, and non-B/non-C hepatocellular carcinoma. A novel …
with arginase deficiency typically present with spastic paraplegia in early childhood.
Diagnosis of this rare neurometabolic disease poses the first challenge because it is often
misdiagnosed as cerebral palsy during initial stages. We describe arginase deficiency in a
20-year-old woman with spastic paraplegia, progressive dystonia, dementia, peripheral
neuropathy, epilepsy, liver cirrhosis, and non-B/non-C hepatocellular carcinoma. A novel …
