[Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study]

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Glycosylphosphatidylinositol (GPI) is crucial for cell surface protein anchoring.
• GPI biosynthesis deficiencies are rare genetic disorders with diverse clinical manifestations.
• This case focuses on GPIBD15, linked to mutations in the GPAA1 gene.

Observation:

• A 6-year-old boy presented with global developmental delay, recurrent fevers, and convulsions since early childhood.
• Clinical findings included delayed mental and motor development, epilepsy, and recurrent infections like tonsillitis.
• Elevated inflammatory markers (WBC, CRP, ESR) were noted during febrile episodes.

Findings:

• Genetic testing revealed compound heterozygous mutations in the GPAA1 gene.
• The patient was diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever syndrome.
• Antiepileptic drugs were ineffective, but glucocorticoid therapy successfully controlled the fever.

Implications:

• This report describes the first documented case of GPAA1-associated GPIBD15 in China.
• Understanding the genetic and clinical features of GPIBD15 is vital for early diagnosis.
• The findings highlight the potential efficacy of glucocorticoid therapy for fever management in GPIBD15.