Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases

2016 ◽  
Vol 38 (3) ◽  
pp. 293-301 ◽  
Author(s):  
Kenji Yamada ◽  
Hironori Kobayashi ◽  
Ryosuke Bo ◽  
Tomoo Takahashi ◽  
Jamiyan Purevsuren ◽  
...  
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Glutaric Acidemia Type Ii ◽  
Molecular Investigation

Adult-Onset Presentation of Glutaric Acidemia Type II With Myopathy

2003 ◽  
Vol 4 (3) ◽  
pp. 124-128 ◽  
Author(s):  
Michael C. Mareska ◽  
Kristin K. Adams ◽  
Joseph Muenzer ◽  
Frank Frerman ◽  
Thomas G. Braun ◽  
...  
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Glutaric Acidemia Type Ii

scholarly journals The Lack of Hepatocyte Steatosis in Adult-onset Type II Citrullinemia Patients as Assessed by 7-year Interval Paired Biopsies

2019 ◽  
Vol 58 (13) ◽  
pp. 1891-1895
Author(s):  
Hiroyuki Suzuki ◽  
Yusuke Kawamura ◽  
Keiichi Kinowaki ◽  
Norio Akuta ◽  
Kayoko Kasuya ◽  
...  
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Onset Type ◽  
Hepatocyte Steatosis

Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele

1991 ◽  
Vol 10 (9) ◽  
pp. 681-687 ◽  
Author(s):  
F. MARTINIUK ◽  
M. MEHLER ◽  
M. BODKIN ◽  
S. TZALL ◽  
K. HIRSCHHORN ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Type Ii ◽  
Adult Onset ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii

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 Adult-onset type II citrullinemia: Current insights and therapy

2018 ◽  
Vol Volume 11 ◽  
pp. 163-170 ◽  
Author(s):  
Kiyoshi Hayasaka ◽  
Chikahiko Numakura
Keyword(s):  
Type Ii ◽  
Adult Onset ◽  
Onset Type

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

Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients

Neurogenetics ◽  
1998 ◽  
Vol 1 (3) ◽  
pp. 205-211 ◽  
Author(s):  
M. Vorgerd ◽  
Barbara Burwinkel ◽  
Heinz Reichmann ◽  
Jean-Pierre Malin ◽  
Manfred W. Kilimann
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Allelic Heterogeneity ◽  
Type Ii ◽  
Adult Onset
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