65:
37:
402:. Individuals with AGU also show increased upper respiratory infections. Development continues until about puberty; however, an individual at 13–16 years of age typically shows mental and motor development similar to a 5-6 year old. Around puberty, a gradual decline in mental abilities and motor skills occurs. This progressive decline continues until about age 25–28, when rapid impairment of abilities occurs, resulting in severe
388:
for individuals diagnosed with AGU needs to be established in their early stages of life. The team for habilitation should include professionals who are experienced in disabilities and the effects that having a disability can have on everyday life. Habilitation will include assessments, assistance
418:. This condition is less common in other countries, but the incidence is unknown. Even though this disease can occur in various races and ethnicities, another study backed this finding up by stating that 1 in 26,000 people in Finland had the disease and that 1 in 18,000 were carriers.
331:. In order to develop aspartylglucosaminuria, the individual must inherit changes in both of his AGU genes (autonomic recessive inheritance). When a person receives one changed form of the gene AGU from one of the parents, the individual is then classified as a carrier.
125:
At birth, there is no sign that a child will develop symptoms of aspartylglucosaminuria. Typically, signs and symptoms become apparent between two and four years of age and become progressively worse as the individual ages. The following signs and symptoms may appear:
355:
When families have a child who has already been diagnosed with AGU, they have the option to observe the enzyme's activity that codes for AGU in future pregnancy, to help determine if the next child will also have a positive diagnosis for aspartylglucosaminuria.
100:
disease because it does deal with inadequate activity in an enzyme's function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the
397:
Individuals with AGU typically have normal development in infancy. Around the age of 2–4 years, they begin showing signs of developmental delay, but development is still progressing. Initial symptoms may present as clumsiness and/or
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347:. This helps show if the enzyme aspartylglucosaminidase is present or partially absent. A skin simple will also show the amount of aspartylglucosaminidase present.
224:
An 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:
755:
368:
have been conducted in hope that the bone marrow will produce the missing enzyme. The results of the tests thus far have shown to be inconclusive.
339:
In order to be diagnosed with AGU an individual takes a urine test, which will show indication of an increased amount of aspartylglucosamin being
323:
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
541:
81:) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues.
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255:(Children are physically uncoordinated, but remain able to play sports and do everyday activities until they reach adulthood.)
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It will be beneficial to children who are diagnosed with AGU to receive an education from a school with special teaching.
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301:
People with aspartylglucosaminuria may have lower than average height, because they tend to go through puberty earlier.
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88:. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example,
806:
741:
642:
461:
763:
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429:, this is the most frequent multiple congenital anomaly/intellectual disability syndrome in Finland.
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64:
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along with other substances. This backup causes progressive damage to the tissues and organs.
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113:
and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the
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638:
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No treatment is available to cure or slow down the progression of aspartylglucosaminuria.
8:
861:
426:
906:
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89:
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with the choice of aids, and information concerning disabilities and counseling.
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544:. Swedish Information Centre for Rare Diseases. 2011-03-16. v1.3. Archived from
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343:. The confirmation of the diagnosis of aspartylglucosaminuria requires a
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Finnish studies have shown that life expectancy is shorter than average.
873:
487:. ISMRD — The International Advocate for Glycoprotein Storage Diseases.
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344:
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learned skills become lost which result in severe learning disabilities
510:. Integrated Genetics, LabCorp Specialty Testing Group. Archived from
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97:
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Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in
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613:. Finnish Information Center on Mental Retardation. Archived from
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Progression of developmental and mental disabilities, including:
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Autosomal recessive is the inheritance pattern of this condition
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106:
328:
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84:
The disease is caused by a defect in an enzyme known as
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Facial features change progressively; this may include:
96:). Aspartylglucosaminuria itself is characterized as a
92:) that are attached to specific proteins (for example,
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development continues, but becomes slower than usual
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Individuals are more prone to respiratory infections
587:. US National Library of Medicine. Archived from
319:Aspartylglucosaminuria is an autosomal recessive
243:individuals become less mobile and more dependent
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372:Preventions/interventions to signs and symptoms
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327:and the other copy comes from the father’s
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208:before school age, concentration lowers
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829:Pseudo-Hurler polydystrophy (ML III)
797:Congenital disorder of glycosylation
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470:
283:enlargement of the spleen and liver
13:
569:. US National Library of Medicine.
552:
14:
949:
928:Glycoprotein metabolism disorders
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164:features becoming more prominent
145:Skin and joints may become loose
807:Post-translational modification
611:"Mental Retardation in Finland"
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30:Glycosylasparaginase deficiency
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451:
259:During the first year of life
205:decrease in mental functioning
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933:Autosomal recessive disorders
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270:Less severe symptoms include:
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359:
334:
7:
432:
314:
142:or difficulty with movement
10:
954:
792:Dolichol kinase deficiency
765:Lysosomal storage diseases
485:"Aspartylglucosaminuria i"
439:Inborn error of metabolism
202:progressive loss of speech
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837:
805:
784:
707:
655:
307:may develop in adulthood.
48:
43:
34:
26:
21:
563:"Aspartylglucosaminuria"
542:"Aspartylglucosaminuria"
240:motor skills deteriorate
773:carbohydrate metabolism
585:Genetics Home Reference
567:Genetics Home Reference
404:intellectual disability
366:Bone marrow transplants
86:aspartylglucosaminidase
845:Aspartylglucosaminuria
824:I-cell disease (ML II)
639:Aspartylglycosaminuria
458:Aspartylglycosaminuria
161:thickening of the skin
75:Aspartylglucosaminuria
22:Aspartylglucosaminuria
896:solute carrier family
581:"Autosomal recessive"
351:Pre-natal diagnosis
267:hernias are common.
862:Alpha-mannosidosis
708:External resources
609:Viitapohja, Kari.
427:fragile X syndrome
121:Signs and symptoms
915:
914:
907:Galactosialidosis
879:Schindler disease
867:Beta-mannosidosis
812:lysosomal enzymes
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173:short, broad nose
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16:Medical condition
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777:Glycoproteinoses
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548:on 8 April 2019.
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90:oligosaccharides
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55:Medical genetics
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384:The process of
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170:broad lower jaw
133:Development of
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656:Classification
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633:External links
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176:rounded cheeks
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938:Rare diseases
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901:Salla disease
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820:Mucolipidosis
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769:Inborn errors
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647:Rare Diseases
645:'s Office of
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617:on 2011-06-06
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591:on 2013-04-28
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514:on 2015-01-28
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466:Rare Diseases
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94:glycoproteins
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59:endocrinology
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856:mannosidosis
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619:. Retrieved
615:the original
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593:. Retrieved
589:the original
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546:the original
516:. Retrieved
512:the original
453:
420:
413:
410:Epidemiology
400:speech delay
396:
386:habilitation
383:
380:Habilitation
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363:
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338:
318:
254:
124:
83:
78:
74:
73:
850:Fucosidosis
27:Other names
922:Categories
874:Sialidosis
838:Catabolism
621:2005-01-30
595:2013-04-05
518:2013-04-02
445:References
423:trisomy 21
345:blood test
167:large head
785:Anabolism
508:"LabCorp"
393:Prognosis
360:Treatment
335:Diagnosis
265:umbilical
135:scoliosis
115:lysosomes
98:lysosomal
50:Specialty
717:Orphanet
433:See also
341:secreted
315:Genetics
305:Epilepsy
287:diarrhea
261:inguinal
140:Seizures
698:D054880
677:: E77.1
416:Finland
321:genetic
111:thyroid
687:208400
421:After
107:spleen
61:
888:Other
329:sperm
103:liver
693:MeSH
682:OMIM
425:and
263:and
810:of
771:of
670:ICD
643:NIH
641:at
462:NIH
460:at
325:egg
79:AGU
924::
822::
767::
722:93
720::
696::
685::
674:10
583:.
565:.
554:^
527:^
493:^
472:^
406:.
109:,
105:,
57:,
903:)
899:(
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775:(
757:e
750:t
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672:-
662:D
624:.
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521:.
77:(
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