Pseudo-pseudohypertriglyceridemia: a case of increased free glycerol without evidence for glycerol kinase deficiency

Abstract High concentrations of glycerol in plasma may result in overestimation of triglycerides in chemical and enzymatic assays. Known causes of increased glycerol concentrations in blood include glycerol-contaminated blood-collector tubes and pseudohypertriglyceridemia, a condition caused by genetic defects in the gene for glycerol kinase. We report a patient with sudden hearing loss who presented with an increased blood glycerol concentration after undergoing an oral glycerol test.

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Error Detection of High Concentrations of Endogenous Free Glycerol in Determination of Serum Triglyceride with the TBA-80S Automated Discrete Analyzer

Clinical Chemistry ◽

10.1093/clinchem/38.7.1376a ◽

1992 ◽

Vol 38 (7) ◽

pp. 1376-1377

Author(s):

I Maeda ◽

S Hayashi ◽

R Fushimi ◽

N Amino ◽

K Miyai

Keyword(s):

Error Detection ◽

Serum Triglyceride ◽

Free Glycerol ◽

High Concentrations

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Glycerol metabolism in rabbits

Canadian Journal of Biochemistry ◽

10.1139/o68-165 ◽

1968 ◽

Vol 46 (9) ◽

pp. 1107-1114 ◽

Cited By ~ 16

Author(s):

Jean Himms-Hagen

Keyword(s):

Turnover Rate ◽

Glycerol Kinase ◽

Rabbit Liver ◽

Constant Infusion ◽

Glycerol Dehydrogenase ◽

Glycerol Metabolism ◽

Utilization Rate ◽

Glycerol Concentration ◽

Glycerol Utilization ◽

Fractional Turnover

The endogenous rate of glycerol production in rabbits was measured by several techniques: constant infusion of 1,3-14C-glycerol or 2-3H-glycerol or unlabeled glycerol; single injection of 1,3-14C-glycerol or 2-3H-glycerol or unlabeled glycerol. The rate was 5.5–11.6 μmoles/kg per minute (9 rabbits). The mean fractional turnover rate was 0.0585 ± 0.0052. During infusion of noradrenaline together with 3H-glycerol, the fractional turnover rate was no different from that in the absence of noradrenaline. The maximum utilization rate of glycerol was 28.1 ± 1.40 μmoles/kg per minute. The glycerol space was 58.1% of body weight. The relationship of glycerol concentration to rate of glycerol utilization in the intact rabbit suggests the existence of an enzyme with a KM for glycerol of 0.33 × 10−3 M; the glycerol kinase of rabbit liver was found to have a KM for glycerol of 0.29 × 10−3 M. This enzyme could account for the disappearance of glycerol in the intact animal except that its Vmax is only 4% of that expected. Possible reasons for this are discussed. A glycerol dehydrogenase with a Vmax similar to that of the glycerol kinase also exists in rabbit liver; its KM for glycerol is so high (0.5 M) that it is unlikely to play a significant role in glycerol metabolism in the normal rabbit.

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Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

Biochemical and Biophysical Research Communications ◽

10.1016/0006-291x(77)91437-1 ◽

1977 ◽

Vol 78 (4) ◽

pp. 1327-1333 ◽

Cited By ~ 55

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

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

Scientia Medica ◽

10.15448/1980-6108.2018.3.31385 ◽

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.

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