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Novel biochemical abnormalities and genotype in Farber disease
Mamta Muranjan1, Shruti Agarwal, Keya Lahiri
1Genetic Clinic, Department of Pediatrics, Seth GS Medical College and KEM Hospital, Parel, Mumbai 400 012, India. muranjanmamta@rediffmail.com
Indian Pediatrics
|May 9, 2012
Summary
Farber disease, a rare genetic disorder, presents unique challenges. This report details a novel mutation in the ASAH1 gene linked to a severe case with unusual symptoms.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Farber disease is a lysosomal storage disorder caused by acid ceramidase deficiency.
- It typically presents with joint pain, nodules, and laryngeal issues, varying in severity.
- Genetic mutations in the ASAH1 gene are the underlying cause.
Observation:
- A one-year-old female patient exhibited overlapping symptoms of classical and type 5 Farber disease variants.
- Unusual clinical findings included sialuria and elevated plasma chitotriosidase levels.
- The patient's genetic profile revealed a novel mutation in the ASAH1 gene.
Findings:
- The novel ASAH1 gene mutation was identified in DNA from the patient's umbilical stump.
- This mutation likely contributes to the severe and atypical presentation of Farber disease.
- The co-occurrence of sialuria and elevated chitotriosidase is a significant, previously unreported observation.
Implications:
- This case expands the known mutational spectrum of the ASAH1 gene in Farber disease.
- Understanding this novel mutation may aid in earlier diagnosis and targeted therapies.
- Further research into the interplay of genetic factors and clinical presentation is warranted.
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