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Summary
CANAVAN DISEASE
AMINOACYLASE 2 DEFICIENCY ASPA
271900
OMIM = Online Medalian Inheritance of Men
141
17p13.2
  • Glyceryl triacetate
  • Lithium citrate
  • no specific treatment
rare (> 200 cases)
autosomal recessive
mutation in the gene encoding aspartoacylase (ASPA)
Juvenile onset: cerebellar signs, optic atrophy, visual loss. Janson CG published 2 cases who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures.
symptoms
blindness, visual loss, visual impairment
constipation
dysarthria
early death
encephalopathy
feeding difficulties, poor feeding
fever
hearing defect, deafness
hypertonia, spasticity
hypotonia
irritability
lethargy, drowsiness, malaise or sleep disorder
leukodystrophy
macrocephaly (large calvaria, >2 SD for age)
motor retardation
myoclonus
nystagmus
onset, infancy
onset, neonatal
opisthotonus
optic atrophy
poor or absent head control
seizures
strokelike episodes
sweating
vomiting
laboratory finding
N-Acetylaspartic acid1000.007000.000.0092.00mmol/mol creatinineurineinfancy
Aspartoacylase 100.00decreased activityfibroblasts
N-Acetylaspartic acid0.000.000.252.83increasedcerebrospinal fluidinfancy
N-Acetylaspartic acid 0.170.81increasedplasma
DNA
CT, brain, abnormalities -
MRI, brain, abnormalities -
MRS, brain, abnormalities -
Cholestanol
Choline0.000.00 decreasedurineno data
Creatine0.000.00 decreasedurineno data
Literature
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