2-aminoadipic 2-oxoadipic aciduria

An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene

An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.

Signs and symptoms

• Mild global developmental delay
• Global developmental delay
• 2-hydroxyadipic aciduria
• Alpha-aminoadipic aciduria
• Microcephaly
• Delayed speech and language development
• Hypotonia
• Attention deficit hyperactivity disorder

Also known as: AMOXAD; alpha-aminoadipic aciduria