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AGU: Clinical Signs

Most of the reported medical information were observed on Finish patients, which represents one genetic mutation. More than 30 different mutations on AGA gene were reported in patients of non-finish ancestry with more discovered every year. Patients with different mutations might have different or milder/more profound signs.

Pregnancy and infancy are normal and the babies look healthy. Once born, girls may have umbilical and boys inguinal hernias, as well as respiratory infections and periods of diarrhea. Early growth spurt usually occurs during the first months of life. Delayed speech, attention deficit, clumsiness, restlessness, continues respiratory infections and long periods of diarrhea are present in most of the preschoolers.

Intellectual disability progressively worsens in adolescence. Most people with this disorder lose much of the speech they have learned, and affected adults usually have only a few words in their vocabulary. Adults with AGU may develop seizures or problems with movement.

All patients excrete early large amounts of aspartylglucosamine in urine. Biochemical screening tests should be easy by urine chromatography in certified labs only. Genetic testing can prove the diagnosis at the following Labs.

Typical development Finnish AGU patients profile (development vary in patients with different AGA gene mutations):