Hereditary Fructose Intolerance
Hereditary fructose intolerance is characterized by hypoglycemia, lactic acidemia, hypophosphatemia, hyperuricemia, hypermagnesemia, hyperalaninemia, nausea, vomiting, abdominal pain, growth restriction, and failure to thrive when fructose or sucrose are ingested. If untreated, an infant exposed to dietary fructose and sucrose may become lethargic and develop seizures over time.
Characteristic metabolic disturbance suggestive of hereditary fructose intolerance
Nausea, vomiting, and abdominal distress following dietary exposure to fructose, sucrose, or sorbitol
PCR-based sequencing of entire coding region, intron/exon boundaries, as well as known pathogenic variants (HGMD 2017.3) in the promoter and deep intronic regions of the specified gene(s).
Sensitivity and Limitations
The analytical sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology.
• ALDOB full gene sequence analysis: 81479
• ALDOB family specific variant analysis: 81403
How to Order
Testing for this gene is also available as part the Metaboseq panel by next-generation sequencing. Deletion/duplication analysis and targeted variant analysis is also available for this gene. Download Inborn Errors of Metabolism requisition.
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