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Aspartylglucosaminuria

Index Aspartylglucosaminuria

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. [1]

12 relations: AGU, Aspartylglucosamine, Aspartylglucosaminidase, Coarse facial features, Congenital disorders of amino acid metabolism, Finnish heritage disease, Glycoproteinosis, ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases, List of conditions treated with hematopoietic stem cell transplantation, List of diseases (A), List of OMIM disorder codes, Lysosomal storage disease.

AGU

Agu is a surname and given name.

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Aspartylglucosamine

Aspartylglucosamine is a derivative of aspartic acid.

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Aspartylglucosaminidase

N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase is an enzyme that in humans is encoded by the AGA gene.

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Coarse facial features

Coarse facial features or "'coarse facies"' describes a constellation of facial features that are present in many inborn errors of metabolism.

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Congenital disorders of amino acid metabolism

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.

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Finnish heritage disease

A Finnish heritage disease is a genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden (Meänmaa) and Russia (Karelia and Ingria).

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Glycoproteinosis

Glycoproteinosis are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function.

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ICD-10 Chapter IV: Endocrine, nutritional and metabolic diseases

This is an overview about the chapter IV (also called chapter E) of the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10).

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List of conditions treated with hematopoietic stem cell transplantation

Hematopoietic stem cell transplantation may be used to treat a number of conditions both congenital and acquired.

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List of diseases (A)

This is a list of diseases starting with the letter "A".

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List of OMIM disorder codes

This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database.

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Lysosomal storage disease

Lysosomal storage diseases (LSDs) are a group of about 50 rare inherited metabolic disorders that result from defects in lysosomal function.

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Redirects here:

Aspartylglycosaminuria.

References

[1] https://en.wikipedia.org/wiki/Aspartylglucosaminuria

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