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Summary
ARGININOSUCCINIC ACIDURIA (ASL)
ARGININOSUCCINASE DEFICIENCY ARGININOSUCCINATE LYASE DEFICIENCY ASL DEFICIENCY
207900
OMIM = Online Medalian Inheritance of Men
23
7q11.21
  • arginine-HCl
  • liver transplantation
  • low-protein diet
rare
autosomal recessive
mutation in the gene encoding argininosuccinate lyase
symptoms
Amino acids, plasma
Amino acids, urine
ataxia
behavior, hyperactive, restless
coma
developmental delay
diarrhea
failure to thrive
growth retardation
hepatomegaly (large liver)
hyperammonemia
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
mental retardation
onset, neonatal
Organic acids, urine
pili torti
preeclampsia, maternal
seizures
shortened gestation time
spastic diplegia/quadriplegia
strokelike episodes
trichorrhexis nodosa
vomiting
laboratory finding
L-Glutamine700.001100.00178.00886.00-Ámol/lplasma
Ammonia200.002000.0025.0080.00-Ámol/lblood
L-Lysine300.00500.0092.00325.00-Ámol/lplasma
Argininosuccinate2.005.000.002.00-Ámol/lplasma
Citrulline100.00300.007.0050.00-Ámol/lplasma
Uracil30.00500.002.0022.00mmol/mol creatinineurine
L-Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Arginine decreased/normalplasma
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
Orotic acid100.00500.000.0011.00mmol/mol creatinineurine
Argininosuccinase 100.00decreased activityliver
Argininosuccinase 100.00decreased activityfibroblasts
Argininosuccinate0.000.00 increasedurineno data
Citrulline0.000.00 increasedurineno data
Uric acid0.000.00 normal-increasedurineno data
Orotidine0.000.00 increasedurineno data
Literature
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