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Summary
ALPHA-MANNOSIDOSIS
MANNOSIDOSIS, ALPHA- MANNOSIDOSIS
248500
OMIM = Online Medalian Inheritance of Men
61
19p13.13
  • no specific treatment
rare (50-100 cases)
autosomal recessive
mutation in the MAN2B1 gene
Type I = severe, infantile Type II = milder, juvenile/adult (rare)
symptoms
cataract
cerebellar atrophy or hypoplasia
coarse facial features
corneal clouding
corneal deposits
dysmorphism
dysostosis multiplex
early death
hearing defect, deafness
hepatomegaly (large liver)
hernia
hyperphagia
infections (severe or recurrent)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
motor retardation
onset, child
onset, infant
pancytopenia
skeletal changes
speech development, delayed, abnormal
splenomegaly (large spleen)
umbilical hernia
laboratory finding
alpha-Mannosidase 100.00decreased activityleucocytes
alpha-Mannosidase 100.00decreased activityfibroblasts
alpha-Mannosidase 100.00decreased activityplasma
Oligosaccharides increasedurine
MRI, brain, abnormalities -
Lymphocytes, vacuoles blood
Literature
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Suchy SFOlivos-Glander IM, Nussabaum RLLowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatusHum Mol Genet402245-22501995
Hoffmann GFet al.Clinical and biochemical phenotype in 11 patients with Mevalonic aciduriaPediatrics910915-9211993
Puig JGet al.The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish familiesMedicine (Baltimore)802102-1122001
Ganesan Vet al.Guanodinoacetate methyltransferase deficiency: new clinical featuresPediatr Neurol170155-1571997
Mak BSet al.New mutations of the HPRT gene in Lesch-Nyhan syndromePediatr Neurol234332-3352000
Ono Jet al.MR findings and neurologic manifestations in Lowe oculocerebrorenal syndromePediatr Neurol140162-1641996
Shevell MIet al.Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiencyPediatr Neurol110224-2291994
Lowe CUTerrey M, MacLachan EAOrganic aciduria, decreased renal ammonia production, hydrophthalmus, and mental retardationAm J Dis Child830166-1841952
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
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
Gregoric Aet al.Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutationPediatr Nephrol002005