Disease Information for Aspartylglycosaminuria

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Midfacial hypoplasia/flat face dysmorphism
Short neck/Brevicollis
Thick sagging of both cheeks/Facies
Angiokeratosis/skin
Facial Angiofibromas
Testicles enlarged/bilateral
Chronic Diarrhea in a Child
Diarrhea and Weight Loss
Diarrhea in Children
Diarrhea, chronic
Edema of buccal mucosa
Hepatosplenomegaly
Behavior problems
Mental Deficiency Child
Psychomotor regression/infant/child
Recurrent URI/Colds/LRI infections
Destructive Behavior
Emotional/affective lability
Hyperactivity, child/signs
Periodic hyperactivity
Psychomotor retardation
Short attention span
Asymmetric Limbs
Cranial asymmetry
Snoring
Coarsened facial features
Lateral Asymmetry
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Recurrent respiratory infections
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Infancy
Demographics & Risk Factors
Ethnic or Racial Factors
Finnish population
Japanese population/ethnic stock
Norwegian population
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Parental consanguinity
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Vacuolated lymphocytes/Lab
Urine Chromatography/Metabolic abnormal
Abnormal Lab Findings - Increased
Methemoglobin (Lab)
URINE Methemoglobin
URINE/Aspartylglucosamine
Diagnostic Test Results
X-RAY
Xray/Hand Metacarpals undertubulated deformity
Xray/Hands abnormal
Xray/Hands Thin epiphyses/Child
Xray/Wrist Odd-shaped Carpal bones
Associated Diseases & Rule outs
Associated Disease & Complications
Fucosidosis
Gingival hyperplasia
Hernia, inguinal indirect
Inguinal Hernia
Kyphoscoliosis
Mental retardation
Methemoglobinemia
Neurobehavior Problems
Ventral hernia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Gene locus 4q32-q33
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Hereditary disease renal effect
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Aspartylglycosaminuria, Synonym/AGA Deficiency, Synonym/AGU Disease, Synonym/Aspartylglucosaminidase Deficiency, Synonym/Aspartylglycosaminuria, Synonym/Glycoasparginase Deficiency
Treatment
Drug Dosage
Synonym/Glycosylasparginase deficiency
Definition

An inborn error of metabolism caused by deficient activity of the enzyme aspartylglucosaminidase. Clinical manifestations consist of psychomotor retardation, coarse facies, hepatosplenomegaly, ventral hernia, and skeletal abnormalities----------------------

Aspartylglycosaminuria; AGA; AGU; Aspartylglucosaminidase Deficiency; Aspartylglucosaminuria ; Glycosylasparaginase Deficiency;Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation; Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body;[NORD 2005]----------------------------------------------

Reported in Finnish, spanish, italian, japanese popoulations especially consanguinous;

often angiokeratoma corporis diffusum assn.

cases: angiokeratoma corporis diffusum aspartylglucosaminuria; Mental retardation, recurrent infections, cardiomyopathy, and emotional lability were featuresCases: Radiographic changes in the hands were noted: thin epiphyses, broad "poorly modeled" (undertubulated) metacarpals, and peculiarly shaped carpal bones;enzymopathic methemoglobinemia and AGU.

excrete early large amounts of aspartylglucosamine in urine, biochemical detection is easy by urine chromatography; Nine patients had facial angiofibromas; Edema of the buccal mucosa and gingival overgrowths were more frequent in AGU patients than in controls;

[It was] concluded that bone marrow transplantation should not be encouraged for the treatment of patients with aspartylglucosaminuria after infancy; [OMIM 2005]

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External Links Related to Aspartylglycosaminuria
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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