The following signs and symptoms  may appear:
　

Individuals are more prone to respiratory infections
Development of scoliosis
Seizures or difficulty with movement
Skin and joints may become loose
Facial features change progressively; this may include:thickening of the skin
features becoming more prominent
large head
broad lower jaw
short, broad nose
rounded cheeksProgression of developmental and mental disabilities, including:progressive loss of speech
decrease in mental functioning
before school age, concentration lowers
development continues, but becomes slower than usualAn intellectual peak occurs in the mid-teens and allows a plateau for the disease. Once an individual hits the age of 25-30 the decrease begins again, including:learned skills become lost which result in severe learning disabilities
motor skills deteriorate
individuals become less mobile and more dependent(Children are physically uncoordinated, but remain able to play sports and do everyday activities until they reach adulthood.) During the first year of life inguinal and umbilical hernias are common. Less severe symptoms include:enlargement of the spleen and liver
diarrheaPeople with aspartylglucosaminuria may have lower than average height, because they tend to go through puberty earlier. Epilepsy may develop in adulthood. Finnish studies have shown that life expectancy is shorter than average. Genetics
Aspartylglucosaminuria is an autosomal recessive genetic condition that is inherited from both parents. The AGU patient is born with two copies of the mutated AGA gene. One copy comes from the mother’s egg and the other copy comes from the father’s sperm. In order to develop aspartylglucosaminuria, the individual must inherit changes in both of his AGU genes (autonomic recessive inheritance).
As per a study of six narcoleptic patients it was found that L-dopa improved vigilance and performance as evaluated by the AVS and the FCRTT, while the capacity to fall asleep rapidly remained unchanged as evaluated by the MSLT. It raises the hypothesis that dopamine may play a role in the physiopathology of excessive daytime sleepiness of this condition. Carnitine
Carnitine, has also been shown to improve narcolepsy symptoms (including daytime sleepiness) by increasing fatty-acid oxidation. Abnormally low levels of acylcarnitine have been observed in patients with narcolepsy. These same low levels have been associated with primary hypersomnia in general in mouse studies. "Mice with systemic carnitine deficiency exhibit a higher frequency of fragmented wakefulness and rapid eye movement (REM) sleep, and reduced locomotor activity." Administration of acetyl-L-carnitine was shown to improve these symptoms in mice. A subsequent human trial found that narcolepsy patients given L-carnitine spent less total time in daytime sleep than patients who were given placebo. See also
References


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