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Summary
ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY
ARGININEMIA ARGININEMIA
207800
OMIM = Online Medalian Inheritance of Men
90
6q23.2
  • amino acid mixture
  • low-protein diet
  • sodium benzoate
rare (1:1000000)
autosomal recessive
mutation arginase-1 gene
symptoms
Amino acids, plasma
ataxia
behavior, hyperactive, restless
buphthalmus
cerebral atrophy
chorea or athetosis
failure to thrive
growth retardation
hyperammonemia
hypotonia
irritability
jaundice
mental retardation
microcephaly
onset, adult
onset, child
onset, newborn
Organic acids, urine
seizures
spastic diplegia/quadriplegia
strokelike episodes
vomiting
laboratory finding
Ammonia90.00200.0025.0080.00-Ámol/lblood
Arginine1000.001500.006.00140.00-Ámol/lplasma
Urea nitrogen1.008.005.0015.00mmol/lserum
Uracil20.0050.002.0022.00mmol/mol creatinineurine
Argininosuccinate0.002.000.001.00+Ôé¼mol/lurinenewborn
Orotic acid500.001000.000.0011.00mmol/mol creatinineurine
Arginase 100.00decreased activityliver
Arginase 100.00decreased activityerythrocytes
MRI, brain, abnormalities -
Guanidinoacetate increasedplasma
Arginine increasedspinal fluid
Homoarginine increasedplasma
Homoarginine increasedspinal fluid
Creatine increasedplasma
Literature
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Krivit WAllogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseasesSpringer Semin Immunopathol260119-1322004
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