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Two Japanese siblings with arginase-1 deficiency identified using a novel frameshift mutation of ARG1

Hisakazu Nakajima1,2,3, Shota Fukuhara1,2

  • 1Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|October 15, 2021
PubMed

Insights

Arginase-1 deficiency, a rare genetic disorder, was identified in two Japanese siblings. This condition, characterized by short stature and neurological issues, results from novel mutations in the ARG1 gene.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Arginase-1 (ARG1) deficiency is an autosomal recessive urea cycle disorder.
  • It leads to hyperammonemia and hypoargininemia, causing neurological damage.

Observation:

  • Two Japanese siblings presented with short stature and neurological symptoms.
  • The elder sister had short stature, while the younger sister exhibited spastic paraparesis and short stature.
  • Both siblings showed elevated plasma arginine levels, with the younger sister having normal blood ammonia levels.

Findings:

  • Genetic testing revealed compound heterozygous mutations in the ARG1 gene: c.121_122insCTT (p.Lys41Thrfs*2) and c.298G>A (p.Asp100Asn).
  • The p.Lys41Thrfs*2 mutation is a newly identified pathogenic mutation.
  • The siblings displayed an aversion to protein-rich foods.

Implications:

  • This study expands the mutational spectrum of arginase-1 deficiency.
  • Understanding ARG1 mutations is crucial for early diagnosis and management of affected individuals.
  • The findings highlight the variable clinical presentation and biochemical profiles in ARG1 deficiency.

Keywords:
arginase-1 deficiencyinherited urea cycle disordernovel pathogenic mutation

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