hawkinsinuria

An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout l

An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.

Signs and symptoms

• Hypertyrosinemia
• 4-Hydroxyphenylpyruvic aciduria
• 4-hydroxyphenylacetic aciduria
• Failure to thrive
• Metabolic acidosis
• Elevated urine hydroxyphenyllactic acid level
• Microcephaly
• Mild intellectual disability
• Sparse hair
• Restlessness

Also known as: 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-HPPD deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency