scholarly journals Glycerol kinase deficiency, juvenile form

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

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor

1984 ◽  
Vol 104 (5) ◽  
pp. 736-739 ◽  
Author(s):  
Edward I. Ginns ◽  
John A. Barranger ◽  
Sharon W. McClean ◽  
Clara Sliva ◽  
Richard Young ◽  
...  
Keyword(s):  
Glycerol Kinase ◽  
Juvenile Form ◽  
Glycerol Kinase Deficiency

scholarly journals SAT-578 A Rare Case of Laboratory Hypertriglyceridemia: Glycerol Kinase Deficiency

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Masako Ueda ◽  
Anna Wolska ◽  
Maureen Sampson ◽  
Frances M Burke ◽  
Daniel J Rader ◽  
...  
Keyword(s):  
Incidental Finding ◽  
Glycerol Kinase ◽  
University Of Pennsylvania ◽  
Cardiovascular Risks ◽  
Juvenile Form ◽  
Glycerol Kinase Deficiency ◽  
History Of ◽  
The Difference ◽  
Potential Methods ◽  
Record Review

Abstract Background: Hypertriglyceridemia (HTG) is common; however, pseudo-HTG due to high glycerol in glycerol kinase deficiency (GKD, MIM: 307030) is a rare cause of HTG that need to be delineated for appropriate management. GKD is an X-linked recessive disorder characterized by hyperglycerolemia and glyceroluria. Two of three GKD subtypes are known as “isolate” GKD due to a mutation in GK gene alone: (1) symptomatic juvenile form, and (2) benign adult form, associated with an incidental finding of HTG. Since most commercial laboratories determine triglyceride (TG) levels by a glycerol measurement, TG-backbone, patients with GKD are mistakenly labelled as having HTG. Glycerol-blanking is required to reveal the actual TG, but it is costly. Since usual TG-lowering medications are ineffective or even harmful, novel methods to screen for individuals with GKD or pseudo-HTG are necessary. Objective: Through identification of a clinical case of GKD that was diagnosed by glycerol-blanking, we are proposing two potential methods to screen for pseudo-HTG, and presenting their reliability. Methods: The patient was recruited into an IRB-approved study investigating etiologies of dyslipidemia at the University of Pennsylvania. Patient provided consent for medical record review. Results: A 49-year-old man was referred for HTG management. His reported TG levels ranged between 490 and 559 mg/dL without any other adverse lipid levels for several years without a history of pancreatitis or diabetes mellitus. Intriguingly, he reported a family history of HTG. Since TG-lowering medications (fibrates and fish oil) had not reduced his TG levels, specialized lipid analyses were obtained: a non-blanked TG level of 521 mg/dL and a glycerol-blanked TG of 66 mg/dL, consistent with pseudo-HTG or hyperglycerolemia. Repeat glycerol blanked TG levels were 68 and 69 mg/dL, confirming the previous result, and the likely diagnosis of GKD. With two methods, estimated TG levels were calculated, using some of his laboratory values: (1) modified Friedewald equation to solve for TG with a direct LDL (dLDL) value, and (2) the application of a newly developed formula derived from a collection of 17,545 patient samples, to calculate the absolute TG-gap, using apolipoprotein A and B, estimating TG levels (% deltaTG), and determining whether a TG mesurement might be falsely deviated from the “plausible” TG value. Although neither methods showed perfect concordance, the calculated TG-valued derived by the two methods were significantly lower than the non-glycerol blanked TG values. The difference was statistically significant (p<0.05). Conclusion: The patient was clinically diagnosed with GKD, and was taken off of fibrate and the recently added niacin. These two methods can be used quickly to screen for pseudo-HTG or patients with GKD. Currently, it is unknown whether high glycerol levels are associated with high cardiovascular risks.

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.

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
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