scholarly journals Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

Open Medicine ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. 455-458
Author(s):  
Pingrun Chen ◽  
Xin Gao ◽  
Bin Chen ◽  
Yan Zhang
Keyword(s):  
Liver Transplantation ◽  
Liver Cirrhosis ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Chinese Patients ◽  
Type Ii ◽  
Adult Onset ◽  
Altered Consciousness ◽  
History Of ◽  
Citrin Deficiency

Abstract Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2 presenting with paroxysmal altered consciousness and refractory hyperammonaemia. The diagnosis was finally confirmed by gene analysis. The patient recovered after liver transplantation. It can be learned from this case that CD should be considered in patients with refractory hyperammonaemia and paroxysmal mental disorder without a history of liver disease.

scholarly journals AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Biomolecules ◽  
2020 ◽  
Vol 10 (8) ◽  
pp. 1100
Author(s):  
Takeyori Saheki ◽  
Mitsuaki Moriyama ◽  
Aki Funahashi ◽  
Eishi Kuroda
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Causative Gene ◽  
Mitochondrial Transporter ◽  
Excess Amount ◽  
Therapeutic Procedures ◽  
Other Substances ◽  
History Of ◽  
Citrin Deficiency ◽  
Aspartate Glutamate Carrier

Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates intake excess and this disease is now known as a pan-ethnic disease. AGC2 (aspartate glutamate carrier 2) or citrin is a mitochondrial transporter which transports aspartate (Asp) from mitochondria to cytosol in exchange with glutamate (Glu) and H+. Asp is originally supplied from mitochondria to cytosol where it is necessary for synthesis of proteins, nucleotides, and urea. In cytosol, Asp can be synthesized from oxaloacetate and Glu by cytosolic Asp aminotransferase, but oxaloacetate formation is limited by the amount of NAD+. This means an increase in NADH causes suppression of Asp formation in the cytosol. Metabolism of carbohydrates and other substances which produce cytosolic NADH such as alcohol and glycerol suppress oxaloacetate formation. It is forced under citrin deficiency since citrin is a member of malate/Asp shuttle. In this review, we will describe history of identification of the SLC25A13 gene as the causative gene for adult-onset type II citrullinemia (CTLN2), a type of citrin deficiency, pathophysiology of citrin deficiency together with animal models and possible treatments for citrin deficiency newly developing.

scholarly journals A case of adult-onset type II citrullinemia with comorbid epilepsy even after liver transplantation

Epilepsia ◽  
2010 ◽  
Vol 51 (12) ◽  
pp. 2484-2487 ◽  
Author(s):  
Yosuke Eriguchi ◽  
Hidenori Yamasue ◽  
Nagafumi Doi ◽  
Takuji Nishida ◽  
Osamu Abe ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Type Ii ◽  
Adult Onset ◽  
Onset Type

scholarly journals ASTHMA IN CYSTIC FIBROSIS

2015 ◽  
Vol 64 (2) ◽  
pp. 118-121
Author(s):  
Marcela Daniela Ionescu ◽  
◽  
Ioana-Alina Anca ◽  
Mihaela Balgradean ◽  
◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Airway Obstruction ◽  
Autosomal Recessive ◽  
Pulmonary Infection ◽  
Autosomal Recessive Disease ◽  
Personal History ◽  
Common Symptom ◽  
Infection And Inflammation ◽  
History Of

Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Lung disease is characterized by impaired mucocilliary clearance with airway obstruction and chronic pulmonary infection and inflammation. Wheeze is a common symptom in CF, but in some cases the wheeze is due to the presence of concomitant asthma. There is no consensus on how to define CF asthma, but the diagnosis is predominantly based on the patient’s strong family and personal history of atopy.

scholarly journals Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures

2021 ◽  
pp. 341-346
Author(s):  
Steven D. Mitchell ◽  
Roger L. Albin ◽  
William T. Dauer ◽  
John L. Goudreau ◽  
Christos Sidiropoulos
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Symptoms ◽  
Phenotypic Diversity ◽  
Phenotypic Expression ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Epistatic Interactions ◽  
History Of ◽  
Vacuolar Protein

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with irregularly shaped red blood cells called acanthocytes. Chorea-acanthocytosis is the most common of these syndromes and is an autosomal recessive disease caused by mutations in the <i>vacuolar protein sorting 13A</i> (VPS13A) gene. We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient’s clinical symptoms. This case adds to the phenotypic diversity of ChAc. More research is needed to fully understand the roles of epistatic interactions on phenotypic expression of neurodegenerative diseases.

scholarly journals THE ROLE OF CONNECTIVE TISSUE DYSPLASIA IN CHILDREN’S CYSTIC FIBROSIS. CLINICAL AND GENETIC ASPECTS

2018 ◽  
Vol 63 (5) ◽  
pp. 20-28
Author(s):  
A. V. Goryainova ◽  
P. V. Shumilov ◽  
N. Yu. Kashirskaya ◽  
S. Yu. Semykin
Keyword(s):  
Cystic Fibrosis ◽  
Liver Fibrosis ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Manifestations ◽  
History Of ◽  
Connective Tissue Dysplasia ◽  
Severe Fibrosis

The article considers the issue of cystic fibrosis – a monogenic autosomal recessive disease. It describes the history of the CFTR gene discovery, the further search for modifier genes to explain the variability of the clinical manifestations of cystic fibrosis. The review discusses problems of connective tissue dysplasia and somatic pathology, which is formed due to the connective tissue dysmorphogenesis in patients with cystic fibrosis; and also the article contains justification for the connection between the formation of severe fibrosis of the lungs and liver and the presence of clinical and genetic markers of connective tissue dysplasia. The author assumes that the clinical and genetic polymorphisms of connective tissue influence the course of cystic fibrosis, formation of bronchiectasis, interstitial pneumofibrosis, cystic fibrosis dysplasia, liver fibrosis and cirrhosis.

scholarly journals Case report: An adult-onset type II citrin deficiency patient in the emergency department

2016 ◽  
Vol 12 (1) ◽  
pp. 410-414 ◽  
Author(s):  
LUJIA TANG ◽  
LIANG CHEN ◽  
HAIRONG WANG ◽  
LIHUA DAI ◽  
SHUMING PAN
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Type Ii ◽  
Adult Onset ◽  
Onset Type ◽  
Citrin Deficiency
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