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

More general terms

• carbohydrate inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/140350