scholarly journals Isolated glycerol kinase deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

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 ◽  
...  
Keyword(s):  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

scholarly journals Recém-nascido com deficiência de glicerol quinase: um caso clínico

2018 ◽  
Vol 28 (3) ◽  
pp. 31385
Author(s):  
Cristina Duarte P. V. G. Madureira ◽  
Cláudia Teles-Silva ◽  
Cláudia Melo ◽  
Susana Gama de Sousa
Keyword(s):  
Emergency Department ◽  
Metabolic Acidosis ◽  
Birth Weight ◽  
Physical Examination ◽  
Laboratory Tests ◽  
Neonatal Period ◽  
Glycerol Kinase ◽  
Glutamic Pyruvic Transaminase ◽  
Glycerol Kinase Deficiency ◽  
Hypernatremic Dehydration

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.

scholarly journals Glycerol kinase deficiency, adult form

2020 ◽  
Author(s):  
Keyword(s):  
Glycerol Kinase ◽  
Adult Form ◽  
Glycerol Kinase Deficiency

Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion

1986 ◽  
Vol 108 (2) ◽  
pp. 189-192 ◽  
Author(s):  
James A. Bartley ◽  
Shivanand Patil ◽  
Sandra Davenport ◽  
David Goldstein ◽  
James Pickens
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Adrenal Insufficiency ◽  
Glycerol Kinase ◽  
Interstitial Deletion ◽  
Glycerol Kinase Deficiency

Glycerol Kinase Deficiency

2011 ◽  
pp. 92-92
Author(s):  
Roger E. Stevenson ◽  
Charles E. Schwartz ◽  
R. Curtis Rogers
Keyword(s):  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

Glycerol kinase deficiency and adrenal hypoplasia congenita

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

scholarly journals Glycerol Hypersensitivity in a Drosophila Model for Glycerol Kinase Deficiency Is Affected by Mutations in Eye Pigmentation Genes

PLoS ONE ◽  
2012 ◽  
Vol 7 (3) ◽  
pp. e31779 ◽  
Author(s):  
Patrick J. Wightman ◽  
George R. Jackson ◽  
Katrina M. Dipple
Keyword(s):  
Glycerol Kinase ◽  
Drosophila Model ◽  
Glycerol Kinase Deficiency ◽  
Eye Pigmentation

Human glycerol kinase deficiency: An inborn error of compartmental metabolism

1983 ◽  
Vol 30 (2) ◽  
pp. 215-230 ◽  
Author(s):  
Edward R.B. McCabe
Keyword(s):  
Inborn Error ◽  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

1988 ◽  
Vol 78 (3) ◽  
pp. 222-227 ◽  
Author(s):  
J. Chelly ◽  
F. Marlhens ◽  
B. Dutrillaux ◽  
G. J. Van Ommen ◽  
M. Lambert ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Glycerol Kinase ◽  
Glycerol Kinase Deficiency ◽  
Probe Site ◽  
Adrenal Hypoplasia
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