scholarly journals Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

1998 ◽  
Vol 35 (8) ◽  
pp. 650-656 ◽  
Author(s):  
D R Sjarif ◽  
R J Sinke ◽  
M Duran ◽  
F A Beemer ◽  
W J Kleijer ◽  
...  
2000 ◽  
Vol 15 (4) ◽  
pp. 316-323 ◽  
Author(s):  
Y.-H. Zhang ◽  
K.M. Dipple ◽  
E. Vilain ◽  
B.-L. Huang ◽  
G. Finlayson ◽  
...  

1977 ◽  
Vol 78 (4) ◽  
pp. 1327-1333 ◽  
Author(s):  
Edward R.B. McCabe ◽  
Paul V. Fennessey ◽  
Mary Anne Guggenheim ◽  
Barbara S. Miles ◽  
William W. Bullen ◽  
...  

2018 ◽  
Vol 28 (3) ◽  
pp. 31385
Author(s):  
Cristina Duarte P. V. G. Madureira ◽  
Cláudia Teles-Silva ◽  
Cláudia Melo ◽  
Susana Gama de Sousa

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified.CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41 mg/dL, urea 306 mg/dL, hypernatremia (182 mEq/L), hyperkalemia (6.8 mEq/L), hyperchloremia (151 mEq/L), glutamic-oxalacetic transaminase 879 U/L, glutamic-pyruvic transaminase 243 U/L, triglycerides 725 mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T> C (p.S63P) as hemizygote status in the GK gene.CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.


2018 ◽  
Vol 7 (4) ◽  
pp. 236
Author(s):  
Ramdan Panigoro ◽  
Fadhal M. Ahmad ◽  
Uni Gamayani ◽  
Neni Anggraeni ◽  
Rini Widyastuti ◽  
...  

Iron is essential and needed in a very small amount. When iron exceeds normal need, metabolic alteration occurs, causing hepatosteatosis. The mechanism of iron inducing hepatosteatosis remains unclear. Glycerol kinase, the enzyme responsible in triglyceride synthesis initiation, is assumed to have a role in the pathomechanism of hepatosteatosis. This study aimed to investigate the gene expression of glycerol kinase in an acute iron overload condition. This study was conducted in Animal Laboratory Faculty of Medicine and Central Laboratory Universitas Padjadjaran from May to June 2017. Three groups of mice were divided by the dose of iron dextran injection (0, 0.1, 0.3 mg/day/mice). After 19 days, mice were terminated, liver weight was measured and glycerol kinase gene expression in the liver was determined by semi-qualitative PCR. Quantification of PCR result was calculated by ImageJ software. There was a significant change in liver weight of the mice in a dose-dependent manner of iron injection. The expression of glycerol kinase tended to decrease, but statistically insignificant. Acute iron dextran injection increases liver weight and tends to reduce glycerol kinase gene expression in mice liver.Keywords: Glycerol kinase, hepatosteatosis, iron overload Efek Zat Besi Dosis Tinggi Akut dalam Meningkatkan Berat Organ dan Menurunkan Ekspresi Gliserol Kinase HeparAbstrakZat besi merupakan nutrien esensial dan diperlukan dalam jumlah yang sangat kecil. Ketika kadar zat besi melebihi kadar normal dalam tubuh, terjadi perubahan metabolisme yang menyebabkan hepatosteatosis. Mekanisme zat besi dalam menyebabkan hepatosteatosis masih belum diketahui secara pasti. Gliserol kinase, enzim yang menginisiasi sintesis trigliserida, diduga berperan dalam patomekanisme hepatosteatosis. Penelitian ini bertujuan untuk meneliti ekspresi gen gliserol kinase pada hepar pada kondisi tinggi zat besi akut. Penelitian ini dilakukan di Laboratorium Hewan Fakultas Kedokteran dan Laboratorium Sentral Universitas Padjadjaran dari bulan Mei sampai dengan Juni 2017. Tiga kelompok mencit dibagi berdasarkan dosis injeksi iron dextran intraperitoneal (0, 0,1, 0,3 mg/hari/ekor). Setelah 19 hari, mencit diterminasi, berat hepar ditimbang dan ekspresi gen gliserol kinase diukur dengan metode semi-kualitatif PCR. Kuantifikasi hasil PCR dilakukan dengan menggunakan aplikasi ImageJ. Terdapat peningkatan berat hepar secara signifikan yang sejalan dengan dosis ijeksi zat besi. Ekspresi gen gliserol kinase cenderung menurun, meskipun secara statistik tidak signifikan. Keadaan tinggi kadar zat besi yang akut meningkatkan berat hepar dan cenderung menurunkan ekspresi gen gliserol kinase pada hepar mencit.Kata kunci: Gliserol kinase, hepatosteatosis, zat besi berlebih


Author(s):  
Roger E. Stevenson ◽  
Charles E. Schwartz ◽  
R. Curtis Rogers

1997 ◽  
Vol 20 (4) ◽  
pp. 609-609 ◽  
Author(s):  
R. A. Clarke ◽  
N. Howard ◽  
W. J. O'Sullivan ◽  
L. G. Svirklys ◽  
A. G. Mackinlay

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