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: 1) acute intermittent ataxia 2) drowsiness 3) mild mental retardation Laboratory: 1) elevated blood tyrosine 2) enhanced urine tyrosine & tyrosine metabolites

References

Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999