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Summary
METACHROMATIC LEUKODISTROPHIES
METACHROMATIC LEUKODYSTROPHY, JUVENILE
250100
OMIM = Online Medalian Inheritance of Men
512
22q13.33
  • bone marrow transplantation
  • immunomodulation (?)
  • vigabatrin
rare (1:40000)
autosomal recessive
3 types:
-late infantile
- juvenile
- adult form
>40 different mutations
symptoms
ataxia
behavior, abnormal or bizarre, confusion
defect of walking, running, rising or climbing
dysarthria
Fanconi syndrome
gallbladder abnormalities
hyperreflexia
hyporeflexia
hypotonia
mental retardation
motor retardation
nystagmus
onset, adulthood
onset, childhood
optic atrophy
peripheral neuropathy
progressive neurologic defect
seizures
laboratory finding
Arylsulfatase A decreased activityall tissues
Protein, total, spinal fluid 10.0030.00increasedcerebrospinal fluid
Lactosylceramide 3-sulfate0.000.00 increasedurineno data
Galactosylceramide 3-sulfate0.000.00 increasedurineno data
Sulfatide, urine0.000.00 increasedurineno data
EEG abnormalities -
MRI, brain, white matter abnormalities -
conjunctival biopsy, abnormal abnormal
Literature
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Girschick HJSeyberth HW, Huppertz HITreatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugsBone250603-6071999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Tanaka YMiyazaki M, Tsuda M, Murai K, Kuzuhara SBlindness due to non-ketotic hyperglycinemia: report of a 38-year-old, the oldest case to dateIntern Med328641-6421993
Chimenti Cet al.Cardiac variant of Fabrys disease mimicking hypertrophic cardiomyopathyCardiologia440469-4731999
Ozaki Iet al.Ribozyme-mediated specific gene replacement of the alpha1-antitrypsin gene in human hepatoma cellsJ Hepatol31053-601999
Brodehl JGellissen K, Kowalewski SIsolierter Defekt der tubul++¦ren Cystinrueckresoprtion in einer Familie mit idiopathischem HypoparathyreoidismusKlin Wschr45038-401967
Macsai MSet al.Tyrosinemia type II: nine cases of ocular signs and symptomsAm J Ophthalmol1324522-5272001
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991