2-Aminoadipic-2-oxoadipic aciduria
2-Aminoadipic-2-oxoadipic Aciduria[edit | edit source]
2-Aminoadipic-2-oxoadipic aciduria is a rare metabolic disorder characterized by the accumulation of specific amino acids and their derivatives in the body. This condition is part of a group of disorders known as amino acid metabolism disorders.
Overview[edit | edit source]
2-Aminoadipic-2-oxoadipic aciduria is caused by a deficiency in the enzyme alpha-aminoadipic semialdehyde synthase, which is involved in the breakdown of lysine, an essential amino acid. This enzyme deficiency leads to the accumulation of 2-aminoadipic acid and 2-oxoadipic acid in the urine and other body fluids.
Symptoms[edit | edit source]
The symptoms of 2-aminoadipic-2-oxoadipic aciduria can vary widely among affected individuals. Common symptoms may include:
- Developmental delay
- Intellectual disability
- Seizures
- Hypotonia (reduced muscle tone)
Diagnosis[edit | edit source]
Diagnosis of 2-aminoadipic-2-oxoadipic aciduria is typically made through:
- Urine organic acid analysis, which reveals elevated levels of 2-aminoadipic acid and 2-oxoadipic acid.
- Genetic testing to identify mutations in the gene responsible for the enzyme deficiency.
Treatment[edit | edit source]
Currently, there is no specific treatment for 2-aminoadipic-2-oxoadipic aciduria. Management focuses on symptomatic treatment and supportive care, which may include:
- Antiepileptic drugs for seizure control
- Physical therapy to improve muscle tone and motor skills
- Special education programs to address developmental delays
Genetics[edit | edit source]
2-Aminoadipic-2-oxoadipic aciduria is inherited in an autosomal recessive pattern. This means that an affected individual must inherit two copies of the mutated gene, one from each parent, to manifest the disorder.
Research[edit | edit source]
Research into 2-aminoadipic-2-oxoadipic aciduria is ongoing, with studies focusing on understanding the biochemical pathways involved and exploring potential therapeutic approaches.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
2-Aminoadipic-2-oxoadipic aciduria is a rare disease.
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Contributors: Prab R. Tumpati, MD
