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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 (1:150000)
autosomal recessive
mutation in the gene encoding argininosuccinate lyase
symptoms
Amino acids, plasma
Amino acids, urine
ataxia
behavior, hyperactive, restless
coma
developmental delay
diarrhea
encephalopathy
episodic course (clinical symptoms)
failure to thrive
growth retardation, poor growth
hepatomegaly (large liver)
hyperammonemia
lethargy, drowsiness, malaise or sleep disorder
liver involvement or dysfunction
mental retardation
onset, infancy
onset, neonatal
Organic acids, urine
pili torti
preeclampsia, maternal
seizures
shortened gestation time
spastic diplegia/quadriplegia/tetraplegia
strokelike episodes
trichorrhexis nodosa
vomiting
laboratory finding
Glutamine700.001100.00178.00886.00-Ámol/lplasma
Ammonia200.002000.0025.0080.00-Ámol/lblood
L-Lysine300.00500.0092.00325.00-Ámol/lplasma
Argininosuccinic acid2.005.000.002.00-Ámol/lplasma
Citrulline100.00300.007.0050.00-Ámol/lplasma
Uracil30.00500.002.0022.00mmol/mol creatinineurine
L-Lysine500.005000.0010.0069.00mmol/mol creatinineurine
Pseudouridine +€mol/lcerebrospinal fluid
Arginine1.0020.00 +€mol/lplasma
Glycine1000.005000.00210.00743.00mmol/mol creatinineurine
Orotic acid2.00500.000.0011.00mmol/mol creatinineurine
Argininosuccinase 100.00decreased activityliver
Argininosuccinase 100.00decreased activityfibroblasts
Argininosuccinic acid1.004000.00 mmol/mol creatinineurine
Uric acid0.000.00 mmol/mol creatinineurine
Orotidine5.0050.00 mmol/mol creatinineurine
Uridine +€mol/lcerebrospinal fluid
Hippuric acid1000.0015000.00 mmol/mol Creaurine
Literature
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