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Summary
PELIZAEUS MERZBACHER DISEASE
PROTEOLIPID PROTEIN, MYELIN PELIZAEUS-MERZBACHER SYNDROME
312080
OMIM = Online Medalian Inheritance of Men
702
Xp22
  • no specific treatment
rare X-linked
symptoms
ataxia
chorea or athetosis
eye movements, abnormal
fasiculations
hypertonia, spasticity
hypotonia
motor retardation
nystagmus
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
progressive neurologic defect
laboratory finding
EMG abnormalities -
MRI, brain, abnormalities -
N-Acetylaspartylglutamate0.000.00 mmol/mol creatinineurineno data
Literature
Krivit WLockman LA, Watkins PA, Hirsch J, Shapiro EGThe future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndromeJ Inherit Metab Dis180398-4121995
Krivit WLockman LA, Watkins PA, Hirsch J, Shapiro EGThe future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndromeJ Inherit Metab Dis180398-4121995
Schlenzig JSPoggi-Travert F, Laurent J, Rabier D, Jan D, Wendel U, Sewell AC, Revillon Y, Kamoun P, Saudubray JMLiver transplantation in two cases of propionic acidemiaJ Inherit Metab Dis180448-4611995
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Leonard JVThe management and outcome of propionic and methylmalonic acidemiaJ Inherit Metab Dis180430-4341995
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Leonard JVThe management and outcome of propionic and methylmalonic acidemiaJ Inherit Metab Dis180430-4341995
Krivit WLockman LA, Watkins PA, Hirsch J, Shapiro EGThe future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndromeJ Inherit Metab Dis180398-4121995
Kolodny EHFluharty ALMetachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosisThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.202693-27391995
Krivit WLockman LA, Watkins PA, Hirsch J, Shapiro EGThe future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndromeJ Inherit Metab Dis180398-4121995