It's more accurate to say that specific genetic disorders affect the processing of amino acids, leading to imbalances and diseases, rather than a simple lack of amino acids in the diet causing diseases directly.
The provided reference lists several genetic amino acid disorders, which are typically caused by enzyme deficiencies that disrupt the normal metabolism of specific amino acids. While not directly caused by a lack of amino acids in the diet, these disorders create a functional deficiency or imbalance in the body's ability to utilize them.
Here's a breakdown based on the reference:
| Disease Name | Abbreviation | Affected Amino Acid/Process |
|---|---|---|
| Argininemia | ARG | Arginine. Deficiency in the enzyme arginase, leading to elevated levels of arginine in the blood. |
| Argininosuccinate acidemia | ASA | Argininosuccinate. Deficiency in the enzyme argininosuccinase, affecting the urea cycle. |
| Citrullinemia type I | CIT-I | Citrulline. Deficiency in the enzyme argininosuccinate synthetase, affecting the urea cycle. |
| Citrullinemia type II | CIT-II | Defect in citrin, a mitochondrial aspartate-glutamate carrier, affecting urea cycle and glucose homeostasis. |
| Defects of biopterin cofactor biosynthesis | BIOPT-BS | Affects the synthesis of biopterin, a cofactor necessary for the metabolism of several amino acids including phenylalanine. |
Key Considerations:
- Genetic Basis: These disorders are primarily genetic, meaning they're caused by mutations in genes that code for enzymes involved in amino acid metabolism.
- Metabolic Disruptions: The enzyme deficiencies disrupt metabolic pathways, leading to an accumulation of certain amino acids or their byproducts, and a deficiency in others.
- Severity: The severity of these disorders can vary depending on the specific mutation and the degree of enzyme deficiency.
Examples of how these disorders impact the body:
- In Argininemia (ARG), the excess arginine can lead to neurological problems.
- In Argininosuccinate acidemia (ASA) and Citrullinemia type I (CIT-I), the urea cycle is impaired, leading to a buildup of toxic ammonia in the blood.
- Citrullinemia type II (CIT-II) impacts both the urea cycle and glucose homeostasis, resulting in a more complex presentation.
- Defects of biopterin cofactor biosynthesis (BIOPT-BS) impact multiple neurotransmitter and amino acid pathways, leading to a range of neurological issues.
While a diet deficient in all amino acids can cause general malnutrition and failure to thrive, these specific diseases are related to inherited problems in processing amino acids.
