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Summary
BETA-MANNOSIDOSIS
MANNOSIDOSIS, BETA- MANNOSIDOSIS MANBA
248510
OMIM = Online Medalian Inheritance of Men
118
4q24
rare (20 cases)
autosomal recessive
first described in goates with dysmyelinisation
symptoms
achalasia
angiokeratoma
ataxia
behavior, hyperactive, restless
cerebral atrophy
dysmorphism
feeding difficulties, poor feeding
hearing defect, deafness
hydrocephalus
hypertonia, spasticity
hypotonia
infections (severe or recurrent)
mental retardation
normal at birth
seizures
short stature
speech development, delayed, abnormal
laboratory finding
beta-Mannosidase 100.00decreased activityleucocytes
beta-Mannosidase 100.00decreased activityfibroblasts
Dolichol increasedserum
Oligosaccharides increasedurine
Literature
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Djouadi Fet al.Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibratePediatr Res544446-4512003
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Fabrizi GMet al.The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeJ Neurol Neurosurg Psychiatry61047-511996
Tsai CLet al.A patient-tailored N-acetylcysteine protocol for acute acetaminophen intoxicationClin Ther273336-3412005
Carmel Ret al.Helicobacter pylori infection and food-cobalamin malabsorptionDig Dis Sci390309-3141994