Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD)

What is Alpha aminoadipic aciduria (2 aminoadipic 2 oxoadipic aciduria) (AMOXAD)

This congenital genetic disease is a rare disorder of lysine and hydroxylysine metabolism characterized by variable clinical presentation

2 aminoadipic 2 oxoadipic aciduria is caused by compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14.

Synonyms

1. 2 aminoadipic 2 oxoadipic aciduria
2. AMOXAD

Prevalence

<1 / 1000000

Age of onset

1. Childhood
2. Infancy

Symptoms of Alpha aminoadipic aciduria

• More than half asymptomatic
• Most common symptom is attention deficit hyperactivity disorder
• muscular hypotonia
• developmental delay
• mild to severe intellectual disability
• moderately delayed psychomotor development (sitting alone at 10 months and walking alone at 25 months) in infancy
• ataxia
• epilepsy
• behavioral disorders
• slight mental retardation (IQ 86)

Prognosis

Prognosis is good with early Physiotherapy and Occupational therapy

Treatment

1. Physiotherapy
2. Occupational therapy