Argininosuccinate lyase deficiency
- Synonyms
- ASA deficiency; ASL deficiency; Arginino succinase deficiency; Argininosuccinate acidemia; Argininosuccinic Aciduria; Argininosuccinic acid lyase deficiency; Inborn error of urea synthesis, arginino succinic type; Urea cycle disorder, arginino succinase type
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Sandesh C Sreenath Nagamani
- Ayelet Erez
- Brendan Lee
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (82 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
Elevated circulating aspartate aminotransferase concentration
- MedGen UID: 57497
- Concept ID: C0151904
- Finding: Finding
Abnormality of metabolism/homeostasis
- Episodic ammonia intoxication
Episodic ammonia intoxication
- MedGen UID: 333343
- Concept ID: C1839541
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hyperglutaminemia
Hyperglutaminemia
- MedGen UID: 326901
- Concept ID: C1839533
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoargininemia
Hypoargininemia
- MedGen UID: 892673
- Concept ID: C4025095
- Finding: Finding
Abnormality of metabolism/homeostasis
- Increased circulating argininosuccinic acid
Increased circulating argininosuccinic acid
- MedGen UID: 1705835
- Concept ID: C5139381
- Finding: Finding
Abnormality of metabolism/homeostasis
- Respiratory alkalosis
Respiratory alkalosis
- MedGen UID: 1411
- Concept ID: C0002064
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Elevated circulating aspartate aminotransferase concentration
- Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Hepatic fibrosis
Hepatic fibrosis
- MedGen UID: 116093
- Concept ID: C0239946
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Protein avoidance
Protein avoidance
- MedGen UID: 326521
- Concept ID: C1839531
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties in infancy
- Abnormality of the genitourinary system
- Aminoaciduria
Aminoaciduria
- MedGen UID: 116067
- Concept ID: C0238621
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Orotic aciduria
Orotic aciduria
- MedGen UID: 78642
- Concept ID: C0268128
- Finding: Finding
Abnormality of the genitourinary system
- Aminoaciduria
- Abnormality of the integument
- Brittle hair
Brittle hair
- MedGen UID: 120480
- Concept ID: C0263490
- Finding: Disease or Syndrome
Abnormality of the integument
- Dry hair
Dry hair
- MedGen UID: 75809
- Concept ID: C0277960
- Finding: Finding
Abnormality of the integument
- Trichorrhexis nodosa
Trichorrhexis nodosa
- MedGen UID: 82668
- Concept ID: C0263485
- Finding: Disease or Syndrome
Abnormality of the integument
- Brittle hair
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral edema
Cerebral edema
- MedGen UID: 2337
- Concept ID: C0006114
- Finding: Pathologic Function
Abnormality of the nervous system
- Coma
Coma
- MedGen UID: 1054
- Concept ID: C0009421
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Elevated CSF argininosuccinic acid concentration
Elevated CSF argininosuccinic acid concentration
- MedGen UID: 1841602
- Concept ID: C5826623
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
- ACMG, ACT Sheet, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Elevated Citrulline], Amino Acidemia/Urea Cycle Disorder, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Elevated Citrulline: Amino Acidemia Algorithm, 2022
- ACMG ACT, 2012American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Argininosuccinic Acidemia, [Urea Cycle Disorder], 2012
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