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Summary
SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT SPG9A
CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES
601162
OMIM = Online Medalian Inheritance of Men
10q24.1
very rare
autosomal dominant
mutation in the ALDH18A1 gene
symptoms
bone age, delayed
cataract
dysarthria
gastroesophageal reflux
hyperreflexia
hypertonia, spasticity
learning disability
muscle weakness
neuropathy
nystagmus
onset, adolescent
short stature
spastic paraplegia
urinary urgency
vomiting
laboratory finding
Citrulline +€mol/lplasma
Ornithine mmol/mol Creaplasma
Proline +€mol/lplasma
Arginine +€mol/lplasma
Literature
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011
Mudd SHHypermethioninemias of genetic and non-genetic origin: A reviewAm J Med Genet C Semin Med Genet15713-322011