Glucoglycinuria

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Glucoglycinuria belongs to a group of inherited metabolic disorders which have in common elevations of serum Lysine levels. Enzyme deficiencies of alpha-aminoadipic semialdehyde dehydrogenase and the saccharopine dehydrogenases have been associated with hyperlysinemia.

Clinical manifestations include mental retardation, recurrent emesis, hypotonia, lethargy, diarrhea, and developmental delay. All disorders in this group are;

• Glucoglycinuria
• Glycinemia (with methylmalonic acidemia)
• Hyperglycinemia
• Hyperlysinemia
• Pipecolic acidemia
• Saccharopinuria
• Other disturbances of metabolism of glycine, threonine, serine, glutamine, and lysine ^[1]

References

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .