Details of Disease

Disease Name

Citrullinemia

ass deficiency; deficiency of citrulline-aspartate ligase

Definition

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency).

Disease Hierarchy

DIS5O5V0: Urea cycle disorder

DISX1GZ8: Citrullinemia

Disease Identifiers

MONDO ID

MONDO_0015991

MESH ID

D020159

UMLS CUI

C0175683

MedGen ID

104491

HPO ID

HP:0032397

Orphanet ID

187

SNOMED CT ID

124711003

General Information of Disease (ID: DISX1GZ8)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Sodium phenylbutyrate	DMXLBCQ	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRMT7	TTAR2P0	Strong	Biomarker	[2]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	DTDSYAQ	Strong	Genetic Variation	[3]
SLC25A33	DTI48RF	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASS1	OT4ZMG0Q	Definitive	Genetic Variation	[5]
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References

1	Sodium phenylbutyrate FDA Label
2	PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction.J Mol Biol. 2017 Jul 21;429(15):2278-2289. doi: 10.1016/j.jmb.2017.05.026. Epub 2017 Jun 3.
3	Molecular genetics of citrullinemia types I and II.Clin Chim Acta. 2014 Apr 20;431:1-8. doi: 10.1016/j.cca.2014.01.032. Epub 2014 Feb 5.
4	The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999 Jun;22(2):159-63. doi: 10.1038/9667.
5	Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene.Anim Genet. 2020 Feb;51(1):106-110. doi: 10.1111/age.12877. Epub 2019 Nov 15.