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hawkinsinuria
Genetics:
- autosomal dominant
- associated with defects in HPD gene
Clinical manifestations:
- symptoms improve within the first year of life
Laboratory:
- transient metabolic acidosis & tyrosinemia
- patients continue to excrete the hawkinsin metabolite in their urine throughout life
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 140350
References
OMIM :accession 140350