title: Arginase deficiency with new phenotype and a novel mutation: contemporary summary.
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.
authors.affiliation: Department of Radiology, Tuen Mun Hospital, Hong Kong Special Administrative Region, China.
authors.forename: Jane Pui Ki
authors.initials: JP
authors.lastname: Tsang
authors.forename: Wai Lun
authors.initials: WL
authors.lastname: Poon
authors.forename: Ho Ming
authors.initials: HM
authors.lastname: Luk
authors.forename: Cheuk Wing
authors.initials: CW
authors.lastname: Fung
authors.forename: Chor Kwan
authors.initials: CK
authors.lastname: Ching
authors.forename: Chloe Miu
authors.initials: CM
authors.lastname: Mak
authors.forename: Ching Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Tak Shing
authors.initials: TS
authors.lastname: Siu
authors.forename: Sidney
authors.initials: S
authors.lastname: Tam
authors.forename: Virginia C N
authors.initials: VC
authors.lastname: Wong
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001119:Arginase / Q000235:genetics* / Q000502:physiology; D001483:Base Sequence; D006528:Carcinoma, Hepatocellular / Q000000981:diagnostic imaging / Q000209:etiology; D002547:Cerebral Palsy / Q000175:diagnosis; D018389:Codon, Nonsense; D003131:Combined Modality Therapy; D000075202:Contraindications; D057210:Delayed Diagnosis; D003704:Dementia / Q000209:etiology; D003951:Diagnostic Errors; D018450:Disease Progression; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D020162:Hyperargininemia / Q000175:diagnosis / Q000178:diet therapy / Q000188:drug therapy / Q000235:genetics*; D008099:Liver / Q000201:enzymology; D008103:Liver Cirrhosis / Q000000981:diagnostic imaging / Q000209:etiology; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000209:etiology; D008969:Molecular Sequence Data; D010166:Palliative Care; D010641:Phenotype; D011859:Radiography; D017384:Sequence Deletion; D020160:Sodium Benzoate / Q000627:therapeutic use; D014463:Ultrasonography; D014635:Valproic Acid; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D018389:Codon, Nonsense; D014635:Valproic Acid; C574619:ARG1 protein, human; D001119:Arginase; D020160:Sodium Benzoate