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Summary
MUCOPOLYSACCHARIDOSIS IV. MORQUIO A SYNDROME
MUCOPOLYSACCHARIDOSIS IVA
253000
OMIM = Online Medalian Inheritance of Men
582
16q24.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:300000)
autosomal recessive
Type A: severe form
Type B: milder form
symptoms
corneal clouding
corneal deposits
dwarfism
dysostosis multiplex
growth retardation
hearing defect, deafness
hydrops fetalis
hypoplastic enamel (thin)
kyphoskoliosis
myopathy
normal at birth
onset, child
prominent lower face
short neck
short trunk
skeletal changes
valvular heart disease
vertebral changes
X-ray, abnormalities
laboratory finding
Keratan sulfate0.000.00 increasedurineno data
Chondroitin-6-sulfate0.000.00 increasedurineno data
N-Acetylgalactosamin-6-sulfate sulfatase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
al-Essa MARashed MS, Ozand PTTyrosinaemia type II: an easily diagnosed metabolic disorder with a rewarding therapeutic responseEast Mediterr Health J561204-12071999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Cormier-Daire Vet al.Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylationJ Pediatr1305817-8221997
Mercier JCet al.Hereditary fructose intolerance with early onsetArch Fr Pediatr3310945-9531976