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Arginase deficiency with new phenotype and a novel mutation: contemporary summary.

Pediatric neurology (2012-09-12)
Jane Pui Ki Tsang, Wai Lun Poon, Ho Ming Luk, Cheuk Wing Fung, Chor Kwan Ching, Chloe Miu Mak, Ching Wan Lam, Tak Shing Siu, Sidney Tam, Virginia C N Wong
ABSTRACT

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.

MATERIALS
Product Number
Brand
Product Description

Supelco
Sodium benzoate, Pharmaceutical Secondary Standard; Certified Reference Material
Sigma-Aldrich
Sodium benzoate, ReagentPlus®, 99%
Sigma-Aldrich
Sodium benzoate, BioXtra, ≥99.5%
Sigma-Aldrich
Sodium benzoate, puriss., meets analytical specification of Ph. Eur., BP, FCC, E211, 99.0-100.5% (calc. to the dried substance), powder
Sigma-Aldrich
Sodium benzoate, purum p.a., ≥99.0% (NT)