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Citrullinemia

MedGen UID:
104491
Concept ID:
C0175683
Disease or Syndrome
Synonym: Citrullinuria
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

Hayasaka K
J Inherit Metab Dis 2021 Jan;44(1):110-117. Epub 2020 Aug 26 doi: 10.1002/jimd.12294. PMID: 32740958
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

Recent clinical studies

Etiology

Komatsu M, Tanaka N, Kimura T, Yazaki M
Nutrients 2023 May 12;15(10) doi: 10.3390/nu15102284. PMID: 37242166Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B
Int J Mol Sci 2022 Oct 25;23(21) doi: 10.3390/ijms232112850. PMID: 36361642Free PMC Article
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
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

Diagnosis

Komatsu M, Tanaka N, Kimura T, Yazaki M
Nutrients 2023 May 12;15(10) doi: 10.3390/nu15102284. PMID: 37242166Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
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

Therapy

Huang X
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Oct 3;52(6):744-750. doi: 10.3724/zdxbyxb-2023-0378. PMID: 37807629Free PMC Article
Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article
Hayasaka K
J Inherit Metab Dis 2021 Jan;44(1):110-117. Epub 2020 Aug 26 doi: 10.1002/jimd.12294. PMID: 32740958
Okano Y, Ohura T, Sakamoto O, Inui A
Mol Genet Metab 2019 Jul;127(3):175-183. Epub 2019 Jun 15 doi: 10.1016/j.ymgme.2019.06.004. PMID: 31255436
Leibowitz J, Thoene J, Spector E, Nyhan W
Virchows Arch A Pathol Anat Histol 1978 Mar 10;377(3):249-58. doi: 10.1007/BF00426934. PMID: 148153

Prognosis

Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Kido J, Häberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K
J Inherit Metab Dis 2022 May;45(3):431-444. Epub 2022 Feb 25 doi: 10.1002/jimd.12483. PMID: 35142380
Longhitano Y, Zanza C, Thangathurai D, Taurone S, Kozel D, Racca F, Audo A, Ravera E, Migneco A, Piccioni A, Franceschi F
Rev Recent Clin Trials 2020;15(4):289-297. doi: 10.2174/1574887115666200811105251. PMID: 32781963
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Curis E, Crenn P, Cynober L
Curr Opin Clin Nutr Metab Care 2007 Sep;10(5):620-6. doi: 10.1097/MCO.0b013e32829fb38d. PMID: 17693747

Clinical prediction guides

Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Posset R, Kölker S, Gleich F, Okun JG, Gropman AL, Nagamani SCS, Scharre S, Probst J, Walter ME, Hoffmann GF, Garbade SF, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group
Mol Genet Metab 2020 Dec;131(4):390-397. Epub 2020 Nov 7 doi: 10.1016/j.ymgme.2020.10.013. PMID: 33288448Free PMC Article
Longhitano Y, Zanza C, Thangathurai D, Taurone S, Kozel D, Racca F, Audo A, Ravera E, Migneco A, Piccioni A, Franceschi F
Rev Recent Clin Trials 2020;15(4):289-297. doi: 10.2174/1574887115666200811105251. PMID: 32781963
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group
Ann Clin Transl Neurol 2019 Sep;6(9):1858-1871. Epub 2019 Aug 30 doi: 10.1002/acn3.50886. PMID: 31469252Free PMC Article
Curis E, Crenn P, Cynober L
Curr Opin Clin Nutr Metab Care 2007 Sep;10(5):620-6. doi: 10.1097/MCO.0b013e32829fb38d. PMID: 17693747

Recent systematic reviews

Hassan A
Tremor Other Hyperkinet Mov (N Y) 2023;13:9. Epub 2023 Mar 28 doi: 10.5334/tohm.747. PMID: 37008993Free PMC Article

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