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Lysinuric Protein Intolerance Presenting with Multiple Fractures
Jennifer E Posey1, Lindsay C Burrage1, Marcus J Miller1
1Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX, 77030-3411, USA.
Molecular Genetics and Metabolism Reports
|November 25, 2014
Summary
Lysinuric protein intolerance (LPI) can present atypically with bone issues like fractures and osteoporosis, even without typical hyperammonemia. Genetic testing, including whole exome sequencing, is crucial for diagnosing rare metabolic disorders like LPI.
Area of Science:
- Genetics
- Metabolic Disorders
- Rare Diseases
Background:
- Lysinuric protein intolerance (LPI) is a rare autosomal recessive metabolic disorder.
- It results from mutations in the SLC7A7 gene, affecting dibasic amino acid transport.
- Classical LPI presents with gastrointestinal issues and hyperammonemia after protein intake.
Observation:
- A 5-year-old male presented with recurrent fractures, idiopathic osteoporosis, and short stature.
- Typical LPI symptoms like hyperammonemia were absent.
- Whole exome sequencing revealed an SLC7A7 mutation, and microarray identified a deletion in the second allele.
Findings:
- The patient was diagnosed with LPI based on genetic findings and biochemical analysis.
- This case highlights an unusual presentation of LPI, primarily involving skeletal issues.
- Genetic diagnostics were key in identifying the underlying cause of the patient's symptoms.
Implications:
- High suspicion for LPI is warranted in patients with unexplained fractures and osteoporosis, even without classic symptoms.
- Whole exome sequencing is valuable for diagnosing rare disorders with atypical presentations.
- Early diagnosis of LPI can lead to interventions that may alter the clinical course.
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