Metabolic disorders

Home Rare Disease Classifications Metabolic disorders Amino acid metabolism disorders

Metabolic disorders ( Sub Categories )

Disorder of methionine cycle and sulfur amino acid metabolism

Methionine Cycle and Sulfur-Containing Amino Acid Metabolism Disorder is a defect in breaking down or using these amino acids, leading to the buildup of harmful substances in the body and causing issues in the nervous system and growth.

Disorder of ornithine or proline metabolism

Ornithine or Proline Metabolism Disorder is a defect in breaking down or using these amino acids, leading to the buildup of harmful substances in the body and causing issues in the nervous system and growth.

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Disorder of peptide metabolism

Peptide Metabolism Disorder is a defect in breaking down or using short chains of amino acids (peptides), leading to the buildup of harmful substances in the body and causing issues in the nervous system and metabolism.

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Disorder of phenylalanine or tyrosine metabolism

Phenylalanine or Tyrosine Metabolism Disorder is a defect in breaking down or using these amino acids, leading to the buildup of harmful substances in the body and causing issues in the nervous system and growth, such as Phenylketonuria (PKU).

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Disorder of serine or glycine metabolism

Serine or Glycine Metabolism Disorder is a defect in breaking down or using these amino acids, leading to the buildup of harmful substances in the body and causing issues in the nervous system and growth.

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Disorder of the gamma-glutamyl cycle

Gamma-Glutamyl Cycle Disorder is a defect in the metabolism of glutathione and related amino acids, leading to the buildup of harmful substances in the body and causing issues in the liver and nervous system.

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Disorder of tryptophan metabolism

Tryptophan Metabolism Disorder is a defect in breaking down or using the amino acid tryptophan, leading to the buildup of harmful substances in the body and causing issues in the nervous system and growth.

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Disorder of urea cycle metabolism and ammonia detoxification

Urea Cycle and Ammonia Metabolism Disorder is a defect in converting toxic ammonia into urea, leading to the buildup of ammonia in the body and causing issues in the nervous system and growth.

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Organic aciduria

Organic Acidemia is a group of metabolic disorders that cause the buildup of organic acids in the body, leading to issues in metabolism, the nervous system, and growth.

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