Citrullinemia type II

A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.



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Narrow down the case reports



Total: 28 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 17196992
 An autopsy case with adult onset type II citrullinemia showing myelopathy.
Tazawa K, Shimojima Y, Okano T, Yazaki M, Takei Y, Shimojo H, Kobayashi K, Saheki T, Ikeda S.
J Neurol Sci. 2007;253(1-2):77-80.
Edema Progressive spastic paraparesis
SLC25A13
Adult Citrullinemia Fatal Outcome Hepatic Encephalopathy Homo sapiens Hyperammonemia Male Necrosis Spinal Cord Spinal Cord Diseases
2
(4.0%)		 27724842
(5057249)
 Anesthetic experience of an adult male with citrullinemia type II: a case report.
Choi JJ, Kim HS, Lee KC, Shin Y, Jo YY.
BMC Anesthesiol. 2016;16(1):92.
Hyperammonemia
SLC25A13
Brain Diseases Citrullinemia Homo sapiens Hyperammonemia Male Middle Aged Spinal Anesthesia
2
(4.0%)		 25283831
 [A case of adult-onset type II citrullinemia (CTLN2) triggered by an overseas travel].
Yamasaki M, Shimada T, Hamaoka S, Shibata M, Naito Y.
Rinsho Shinkeigaku. 2014;54(9):747-50.
Hyperammonemia
Adult Amino Acids, Branched-Chain Biological Markers Citrullinemia Diet Differential Diagnosis Electroencephalography Hepatic Encephalopathy Homo sapiens Male Nuts
2
(4.0%)		 22892490
 An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
Takahashi Y, Koyama S, Tanaka H, Arawaka S, Wada M, Kawanami T, Haga H, Watanabe H, Toyota K, Numakura C, Hayasaka K, Kato T.
Intern Med. 2012;51(16):2131-4.
Tremor
SLC25A13
p|SUB|D|493|G p|SUB|S|225|X;RS#:80338719
Age of Onset Citrullinemia Comorbidity Ferritin Hepatocyte Homo sapiens Iron Metabolism Disorders Japan Liver Male Middle Aged Mitochondrial Membrane Transport Proteins Ultrasonography
2
(4.0%)		 22066084
(3205363)
 Auxiliary partial orthotopic liver transplantation for adult onset type II citrullinemia.
Kim BS, Joo SH, Lee SH, Lee JI, Kim HC, Nam DH, Park HC.
J Korean Surg Soc. 2011;80 Suppl 1:S51-4.
Hyperammonemia
SLC25A13
2
(4.0%)		 21914561
 A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.
Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F, Dionisi-Vici C.
Mol Genet Metab. 2011;104(4):501-6.
Jaundice
SLC25A13
p|SUB|G|437|E
Amino Acid Sequence Base Sequence Binding Sites Citrullinemia Conserved Sequence Genetic Association Studies Homo sapiens Homozygote Infant Male Missense Mutation Mitochondrial Membrane Transport Proteins Models, Molecular Molecular Sequence Data Protein Binding Recombinant Proteins Sequence Analysis, DNA Tertiary Protein Structure
2
(4.0%)		 21533735
 Headache and neuropsychic disorders in the puerperium: a case report with suspected deficiency of urea cycle enzymes.
Tonini MC, Bignamini V, Mattioli M.
Neurol Sci. 2011;32 Suppl 1:S157-9.
Psychosis
Adult Females Headache Homo sapiens Hyperammonemia Puerperal Disorders Urea Cycle Disorders, Inborn
2
(4.0%)		 21204812
 A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation.
Eriguchi Y, Yamasue H, Doi N, Nishida T, Abe O, Yamada H, Aoki S, Suga M, Inoue H, Nonaka H, Obata T, Ikehira H, Kobayashi K, Kasai K.
Epilepsia. 2010;51(12):2484-7.
Seizure
SLC25A13
Adult Brain Brain Diseases, Metabolic Brain Mapping Citrullinemia Comorbidity Electroencephalography Epilepsy, Temporal Lobe Functional Laterality Hippocampus Proper Homo sapiens Image Processing, Computer-Assisted Magnetic Resonance Imaging Magnetic Resonance Spectroscopy Male Sclerosis
2
(4.0%)		 21161389
 Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
Chew HB, Ngu LH, Zabedah MY, Keng WT, Balasubramaniam S, Hanifah MJ, Kobayashi K.
J Inherit Metab Dis. 2010;33 Suppl 3:S489-95.
Jaundice
SLC25A13
|DEL|851|4 |INS|1638|23
Asians Biological Markers Citrullinemia DNA Mutational Analysis Exons Fatal Outcome Females Genetic Predisposition to Disease Heredity Homo sapiens Infant Infant, Newborn Jaundice, Obstructive Liver Failure Malaysia Male Mitochondrial Membrane Transport Proteins Mutation Phenotype Time Factors
2
(4.0%)		 20614727
 Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
Ngu HL, Zabedah MY, Kobayashi K.
Malays J Pathol. 2010;32(1):53-7.
Jaundice
SLC25A13
Child Child, Preschool Citrullinemia Females Homo sapiens Infant Infant, Newborn Intrahepatic Cholestasis Malaysia Male Mitochondrial Membrane Transport Proteins Mutagenesis, Insertional Polymerase Chain Reaction
        

Phenotype(s) retrieved from Orphanet

    Total: 46

HPO ID Term Frequency
HP:0001397 Hepatic steatosis Very frequent (99-80%)
HP:0008281 Acute hyperammonemia Very frequent (99-80%)
HP:0011966 Elevated plasma citrulline Very frequent (99-80%)
HP:0045082 Decreased body mass index Very frequent (99-80%)
HP:0000711 Restlessness Frequent (79-30%)
HP:0000718 Aggressive behavior Frequent (79-30%)
HP:0000737 Irritability Frequent (79-30%)
HP:0000738 Hallucinations Frequent (79-30%)
HP:0000746 Delusions Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0001254 Lethargy Frequent (79-30%)
HP:0001289 Confusion Frequent (79-30%)
HP:0001337 Tremor Frequent (79-30%)
HP:0002155 Hypertriglyceridemia Frequent (79-30%)
HP:0002240 Hepatomegaly Frequent (79-30%)
HP:0002329 Drowsiness Frequent (79-30%)
HP:0002354 Memory impairment Frequent (79-30%)
HP:0002360 Sleep disturbance Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003073 Hypoalbuminemia Frequent (79-30%)
HP:0003075 Hypoproteinemia Frequent (79-30%)
HP:0003077 Hyperlipidemia Frequent (79-30%)
HP:0007159 Fluctuations in consciousness Frequent (79-30%)
HP:0012164 Asterixis Frequent (79-30%)
HP:0030166 Night sweats Frequent (79-30%)
HP:0030765 Sleep terror Frequent (79-30%)
HP:0031258 Delirium Frequent (79-30%)
HP:0100738 Abnormal eating behavior Frequent (79-30%)
HP:0000709 Psychosis Occasional (29-5%)
HP:0000752 Hyperactivity Occasional (29-5%)
HP:0000805 Enuresis Occasional (29-5%)
HP:0001259 Coma Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001395 Hepatic fibrosis Occasional (29-5%)
HP:0001402 Hepatocellular carcinoma Occasional (29-5%)
HP:0001733 Pancreatitis Occasional (29-5%)
HP:0002013 Vomiting Occasional (29-5%)
HP:0002014 Diarrhea Occasional (29-5%)
HP:0002181 Cerebral edema Occasional (29-5%)
HP:0002480 Hepatic encephalopathy Occasional (29-5%)
HP:0003124 Hypercholesterolemia Occasional (29-5%)
HP:0003233 Decreased HDL cholesterol concentration Occasional (29-5%)
HP:0010529 Echolalia Occasional (29-5%)
HP:0012569 Delayed menarche Occasional (29-5%)
HP:0100754 Mania Occasional (29-5%)
HP:0100785 Insomnia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 15

HPO ID Term # of case reports
HP:0001987 Hyperammonemia 9
HP:0001298 Encephalopathy 4
HP:0001406 Intrahepatic cholestasis 3
HP:0000969 Edema 2
HP:0002480 Hepatic encephalopathy 2
HP:0001250 Seizures 1
HP:0001254 Lethargy 1
HP:0002039 Anorexia 1
HP:0002196 Myelopathy 1
HP:0002353 EEG abnormality 1
HP:0006280 Chronic pancreatitis 1
HP:0007199 Progressive spastic paraparesis 1
HP:0007335 Recurrent encephalopathy 1
HP:0012378 Fatigue 1
HP:0030731 Carcinoma 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC25A13 solute carrier family 25 member 13 10165