Arginase Deficiency With New Phenotype and a Novel Mutation: Contemporary Summary

作者：Tsang Jane Pui Ki; Poon Wai Lun; Luk Ho Ming; Fung Cheuk Wing; Ching Chor Kwan; Mak Chloe Miu; Lam Ching Wan; Siu Tak Shing; Tam Sidney; Wong Virginia C N^*

来源：Pediatric Neurology, 2012, 47(4): 263-269.

DOI：10.1016/j.pediatrneurol.2012.06.012

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 homozygous mutation NM_000045.2 (ARG1):c.673del (p.Arg225GlyfsX5) was detected. We suggest that all children presenting with progressive neurodegeneration or spastic paraplegia in the absence of risk factors for cerebral palsy should be screened for inborn errors of metabolism, including arginase deficiency. For monitoring urea cycle defects, noninvasive imaging screening for liver fibrosis and hepatocellular carcinoma can help ensure early detection, with potential treatment implications.

• 出版日期2012-10
• 单位香港大学