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Disease	ARGININOSUCCINIC ACIDURIA (ASL)
Synonym	ARGININOSUCCINASE DEFICIENCY; ARGININOSUCCINATE LYASE DEFICIENCY; ASL DEFICIENCY
OMIM	207900 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	argininosuccinate lyase Detailed enzyme information on www.expacy.ch
Gene locus	7cen-q11.2 ?
genetests.org	search search on genetest.org by MIM 207900 search search on genetest.org by ARGININOSUCCINIC+ACIDURIA Testing - View a listing of laboratories that provide clinical testing for this disorder
Summary	1:70000 - 1:100000 autosomal recessive
Clinical symptoms	Amino acids, plasma Amino acids, urine behavior, hyperactive, restless coma diarrhea failure to thrive growth retardation hyperammonemia lethargy, drowsiness, malaise or sleep disorder mental retardation onset, newborn Organic acids, urine pili torti preeclampsia, maternal seizures shortened gestation time spastic diplegia/quadriplegia trichorrhexis nodosa vomiting
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 200.00-2000.00 µmol/l
Abnormal Findings in fibroblasts	Argininosuccinase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in liver	Argininosuccinase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in plasma	Arginine \| Significant : - decreased/normal Argininosuccinate Normal: 0.00-2.00 µmol/l \| Significant : 2.00-5.00 µmol/l Citrulline Normal: 10.00-45.00 µmol/l \| Significant : 100.00-300.00 µmol/l Glutamine Normal: 376.00-709.00 µmol/l \| Significant : 700.00-1100.00 µmol/l Lysine Normal: 92.00-325.00 µmol/l \| Significant : 300.00-500.00 µmol/l
Abnormal Findings in urine	Argininosuccinate \| Significant : - increased Glycine Normal: -950.00 mmol/mol creatinine \| Significant : 1000.00-5000.00 mmol/mol creatinine Lysine Normal: 7.00-29.00 mmol/mol creatinine \| Significant : 500.00-5000.00 mmol/mol creatinine Orotic acid Normal: 0.00-11.00 mmol/mol creatinine \| Significant : 100.00-500.00 mmol/mol creatinine Uracil Normal: 2.00-22.00 mmol/mol creatinine \| Significant : 30.00-500.00 mmol/mol creatinine
Treatment	arginine-HCl liver transplantation low-protein diet
Picture 71	11 years old girl with mental retardation and late onset ASL
Literature	There are 10 publications available. Click here to open the relevant ARGININOSUCCINIC ACIDURIA (ASL) publications
Ramedis Case reports with long term followup	There are 11 patient data available. Click here to open the list of ARGININOSUCCINIC ACIDURIA (ASL) patients documented in Ramedis database