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Elhem Jbebli1,2, Yosra Jbeli1,2, Rym Amdouni1,2

  • 1Children's medicine department A, Bechir Hamza children's hospital.

La Tunisie Medicale
|May 27, 2024
PubMed
Summary

Lysinuric protein intolerance (LPI) is a rare genetic disorder. Early diagnosis and treatment are crucial to prevent severe complications like growth and neurological issues, with a specific mutation common in Tunisian pediatric cases.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Pediatrics

Background:

  • Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease.
  • It stems from cationic amino acid transport deficiency due to SLC7A7 gene mutations.

Purpose of the Study:

  • To delineate the clinical, diagnostic, and therapeutic characteristics of LPI.
  • To investigate the impact of diagnostic and treatment delays on patient outcomes.

Main Methods:

  • Retrospective study over 30 years (1992-2022) at La Rabta Hospital.
  • Inclusion of pediatric patients with suggestive clinical signs and urinary orotic acid.
  • Analysis of clinical data, diagnostic findings, treatment regimens, and long-term follow-up.

Main Results:

Keywords:
Hereditary metabolic diseaseMacrophagic activationOsteoporosisUrea cycle

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  • Seven patients were included, with median onset at 9 months and diagnosis at 21 months.
  • Key features included growth retardation, hepatosplenomegaly, hematological abnormalities, hyperammonemia, and increased urinary orotic acid.
  • The del TTCT 1471 mutation was identified in five patients; low protein diet and citrulline supplementation were administered.
  • Complications comprised growth/neurological retardation, hemophagocytic lymphohistiocytosis, and osteoporosis. Six patients survived after a median 11-year follow-up.

Conclusions:

  • Diagnostic and treatment delays in LPI lead to significant bone and neurological sequelae.
  • The delTTCT1471 mutation is prevalent in Tunisian pediatric LPI cases.
  • Absence of pulmonary involvement in this cohort suggests a potentially better prognosis regarding this specific complication.