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Citrullinuria

MedGen UID:
104491
Concept ID:
C0175683
Disease or Syndrome
Synonym: Citrullinemia
SNOMED CT: Citrullinemia (398680004); Argininosuccinate synthase deficiency (398680004); ASS deficiency (398680004); ASA synthase deficiency (398680004); Argininosuccinase deficiency (398680004); ASAS deficiency (398680004); Arginosuccinate synthetase deficiency (398680004); Deficiency of citrulline-aspartate ligase (124711003); Deficiency of argininosuccinate synthase (124711003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Related gene: ASS1
 
HPO: HP:0032397
Monarch Initiative: MONDO:0015991
OMIM®: 215700
Orphanet: ORPHA187

Definition

An increased concentration of citrulline in the urine. [from HPO]

Conditions with this feature

Saccharopinuria
MedGen UID:
75693
Concept ID:
C0268556
Disease or Syndrome
Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1986).

Professional guidelines

PubMed

ICMR Task Force on Inherited Metabolic Disorders
Indian J Pediatr 2018 Dec;85(12):1050-1054. Epub 2018 Mar 15 doi: 10.1007/s12098-017-2545-4. PMID: 29542068
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H
Biochem Genet 2018 Apr;56(1-2):7-21. Epub 2017 Nov 1 doi: 10.1007/s10528-017-9825-6. PMID: 29094226
Auron A, Brophy PD
Pediatr Nephrol 2012 Feb;27(2):207-22. Epub 2011 Mar 23 doi: 10.1007/s00467-011-1838-5. PMID: 21431427

Recent clinical studies

Diagnosis

Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V
J Appl Genet 2007;48(3):277-80. doi: 10.1007/BF03195224. PMID: 17666782
Cristoni S, Cantù M, Bernardi LR, Gerthoux P, Gonella E, Brambilla M, Cavalca V, Zingaro L, Guidugli F
Rapid Commun Mass Spectrom 2005;19(10):1231-6. doi: 10.1002/rcm.1921. PMID: 15838926
Mohyuddin F, Rathbun JC, McMurray WC
Am J Dis Child 1967 Jan;113(1):152-6. doi: 10.1001/archpedi.1967.02090160202033. PMID: 6015893

Therapy

Mohyuddin F, Rathbun JC, McMurray WC
Am J Dis Child 1967 Jan;113(1):152-6. doi: 10.1001/archpedi.1967.02090160202033. PMID: 6015893

Clinical prediction guides

Cimbalistiene L, Lehnert W, Huoponen K, Kucinskas V
J Appl Genet 2007;48(3):277-80. doi: 10.1007/BF03195224. PMID: 17666782

Supplemental Content

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