Metabolic disorders

Home Rare Disease Classifications Metabolic disorders Amino acid metabolism disorders

Metabolic disorders ( Sub Categories )

Multiple glycan binding disorder

Disorder of amino acid absorption and transport

Amino Acid Absorption and Transport Disorder is a defect in the body's ability to absorb or transport essential amino acids, leading to nutritional deficiencies and issues in growth and metabolism.

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Disorder of asparagine metabolism

Asparagine Metabolism Disorder is a defect in breaking down or using the amino acid asparagine, 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 beta and omega amino acid metabolism

Beta and Omega Amino Acid Metabolism Disorder is a defect in breaking down or using long-chain amino acids, 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 branched-chain amino acid metabolism

Branched-Chain Amino Acid Metabolism Disorder is a defect in breaking down amino acids like leucine, isoleucine, and valine, leading to the buildup of toxic substances in the body and causing issues in the nervous system and growth.

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Disorder of glutamine metabolism

Glutamine Metabolism Disorder is a defect in breaking down or using the amino acid glutamine, 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 histidine metabolism

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

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Disorder of lysine and hydroxylysine metabolism

Lysine and Hydroxylysine 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 growth and the nervous system.

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Disorder of melanin metabolism

Melanin Metabolism Disorder is a defect in the production or distribution of melanin pigment in the body, leading to issues in skin, hair, or eye color, such as vitiligo or albinism.

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