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Alpha-aminoadipic aciduria: chemical and enzymatic studies
Journal of Inherited Metabolic Disease
|January 1, 1980
Summary
A new case of alpha-aminoadipic aciduria presented with immunodeficiency, leading to death at 4 months. Despite high urinary alpha-aminoadipate, enzymatic studies did not confirm the expected enzyme deficiency.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Immunology
Background:
- Alpha-aminoadipic aciduria is a rare metabolic disorder.
- It is often associated with neurological and immunological abnormalities.
Observation:
- A 4-month-old infant presented with apparent immunodeficiency and alpha-aminoadipic aciduria.
- High levels of alpha-aminoadipate, alpha-keto-adipate, and alpha-hydroxy-adipate were detected in the urine.
- Post-mortem analysis revealed peak alpha-aminoadipate concentrations in the liver and kidneys.
Findings:
- Enzymatic assays on liver and fibroblasts did not show the anticipated deficiency in alpha-amino-adipate aminotransferase.
- This finding may be attributed to compensatory cytoplasmic aminotransferase activity.
Implications:
- This case highlights the complex biochemical and clinical presentation of alpha-aminoadipic aciduria.
- Further research is needed to elucidate the precise enzymatic defect and its link to immunodeficiency.
- Understanding these mechanisms could lead to improved diagnostic and therapeutic strategies for affected infants.