tyrosinemia type 3

Etiology

4-hydroxyphenylpyruvate dehydrogenase deficiency

Pathology

no liver dysfunction

Genetics

• autosomal recessive
• associated with defects in HPD gene
• heteroxygous defect in HPD gene results in hawkinsinuria

Clinical manifestations

• acute intermittent ataxia
• drowsiness
• mild mental retardation

Laboratory

• elevated blood tyrosine
• enhanced urine tyrosine & tyrosine metabolites

More general terms

• tyrosinemia

Additional terms

• hawkinsinuria

Database

• OMIM: https://mirror.omim.org/entry/276710