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Summary
PELIZAEUS MERZBACHER DISEASE
PROTEOLIPID PROTEIN, MYELIN PELIZAEUS-MERZBACHER SYNDROME
312080
OMIM = Online Medalian Inheritance of Men
702
Xp22.2
  • no specific treatment
rare
X-linked recessive
mutation in the PLP1 gene
2 types:
type I: Classical form, less severe with survival into adulthood
type II: Connatal form, most severe with death in first decade

symptoms
ataxia
chorea or athetosis
dysarthria
dystonia
eye movements, abnormal
fasiculations
hearing defect, deafness
hypertonia, spasticity
hypotonia
mental retardation
microcephaly (<2 SD for age)
motor retardation
nystagmus
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
progressive neurologic defect
psychomotor retardation
seizures
stridor
laboratory finding
EMG abnormalities -
MRI, brain, abnormalities -
N-Acetylaspartylglutamate0.000.00 mmol/mol creatinineurineno data
Literature
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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
Carrozzo R,et al.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsJ Inherit Metab Dis392243-2522016
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
Rajakulendran S,et al.A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.PLoS One1112016
Elpeleg O,et al.Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionAm J Hum Genet7661081-10862005
Maas RR,et al.SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)JIMD Rep27027-322015
Chinnery PFMutations in SUCLA2: a tandem ride back to the Krebs cycleBrain1303606-6092007
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
Li S,et al.Valproic acid-induced hepatotoxicity in Alpers syndrome is associated with mitochondrial permeability transition pore opening-dependent apoptotic sensitivity in an induced pluripotent stem cell model.Hepatology6151730-17392015
Qian Y,Ziehr JL, Johnson KAAlpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanismsFront Genet601352015