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ASPARTYLGLUCOSAMINURIA (AGU)

ASPARTYLGLUCOSAMINURIA (AGU)
ASPARTYLGLUCOSAMINIDASE DEFICIENCY; AGA DEFICIENCY
208400
OMIM = Online Mendelian Inheritance of Men
93
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
3.5.1.26
4q34.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
E77.1
rare (~100 cases)
autosomal recessive
mutation in the AGA gene
most of patients were found in Finland
Laboratory findings    4-N-2-acetamido-2-deoxy-beta-D-glucopyrasonyl-L-asparagine inc (urine)
    Aspartylglucosamine inc (urine)
    Lymphocytes, vacuoles (blood)
    N-Aspartylglucosamine inc (urine)
    Oligosaccharides abn (urine)
Symptoms    acne
    angiokeratoma
    anteverted nostril
    brachycephaly
    cardiomyopathy
    cardiomyopathy, hypertrophic
    cerebral atrophy
    clubfoot
    clumsiness, coordination defect or unsteadiness
    coarse facial features
    diarrhea
    dysostosis multiplex
    heart involvement
    hepatomegaly (large liver)
    hernia
    hypertonia, spasticity
    infections (respiratory tract/system)
    infections (severe or recurrent)
    intellectual disability/intellectual developmental disorder
    large or wide mouth
    lens opacities
    macroglossia, large/protuding tongue
    mental retardation
    microcephaly (<2 SD for age)
    neutropenia (decreased neutrophils)
    normal at birth
    onset, childhood
    onset, infancy
    onset, neonatal
    photophobia or photosensitive defect in light-exposed area
    seizures
    short stature
    skeletal changes, skeletal abnormalities
    skoliosis, kyphoskoliosis
    speech development, delayed, abnormal
    splenomegaly (large spleen)