‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiency

Goussault, Yves; Turpin, Elisabeth; Néel, Dominique; Dreux, C; Chanu, B.; Bakir, R; Rouffy, J

doi:10.1016/0009-8981(82)90171-1

Cited by 34 publications

(13 citation statements)

References 4 publications

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“…Therefore, hyper-triglyceridaemia can be incorrectly diagnosed in rare patients with glycerol kinase deficiency who have high baseline concentrations of plasma glycerol. 10 The only procedure that reliably differentiates the specific triglyceride-rich lipoprotein fractions is ultracentrifugation followed by electrophoresis, which is done in some specialised lipid centres.…”

Section: Considerations For Measurement Of Triglyceride Concentrationsmentioning

confidence: 99%

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

Hegele

Ginsberg

Chapman

et al. 2014

The Lancet Diabetes & Endocrinology

519

396

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Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride concentration 2–10 mmol/L). Because of clustering of susceptibility alleles and secondary factors in families, biochemical screening and counselling for family members is essential, but routine genetic testing is not warranted. Treatment includes management of lifestyle and secondary factors, and pharmacotherapy. In severe hypertriglyceridaemia, intervention is indicated because of pancreatitis risk; in mild-to-moderate hypertriglyceridaemia, intervention can be indicated to prevent cardiovascular disease, dependent on triglyceride concentration, concomitant lipoprotein disturbances, and overall cardiovascular risk.

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Section: Considerations For Measurement Of Triglyceride Concentrationsmentioning

confidence: 99%

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

Hegele

Ginsberg

Chapman

et al. 2014

The Lancet Diabetes & Endocrinology

519

396

View full text Add to dashboard Cite

show abstract

“…Other possible symptoms include delayed growth [1,11,19,20,25] and osteoporosis [11,20,25]. Apart form infantile GKD, the same enzyme defect has been observed in a juvenile form of GKD characterized by episodic vomiting, acidaemia and stupor [7,9,19] and a form of GKD without any clinical symptoms [10,19,24,26,35]. Apart form infantile GKD, the same enzyme defect has been observed in a juvenile form of GKD characterized by episodic vomiting, acidaemia and stupor [7,9,19] and a form of GKD without any clinical symptoms [10,19,24,26,35].…”

Section: Introductionmentioning

confidence: 96%

Infantile glycerol kinase deficiency— a condition requiring prompt identification

et al. 1987

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Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy. The enzyme defect leads to increased levels of glycerol in blood and urine, which can be used for diagnosis. Without recognition of this condition, the chances for life-saving steroid treatment and for genetic counselling are missed. We report clinical, endocrinological, biochemical, and morphological findings in two non-related boys. One of them died in early infancy. The other is thriving at the age of 2 years although he is suffering from a myopathy not distinguishable from Duchenne muscular dystrophy. We discuss when to suspect and how to confirm the diagnosis of infantile GKD, and under what precautions the condition is detectable by commonly used screening procedures for inborn errors of metabolism.

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“…Glycerol is measured as triglyceride in routine laboratory tests. Thus, elevated levels of triglycerides in these cases are not described as hypertriglyceridemia but, as a more precise term, as “pseudo-hypertriglyceridemia” (10). Although glycerol is not an acidic compound, glyceroluria can usually be detected with urinary organic acid measurements using gas chromatography-mass spectrometry (1).…”

Section: Discussionmentioning

confidence: 99%

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

Korkut¹,

Baştuğ²,

Raygada³

et al. 2016

Jcrpe

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Contiguous gene deletions of chromosome Xp21 can lead to glycerol kinase deficiency and severe adrenocortical insufficiency (AI) in a male newborn among other problems. We describe our experience with two such patients who presented with dysmorphic facies, AI, and pseudo-hypertriglyceridemia. Both infants had normal serum 17-hidroxyprogesterone levels, and adrenal glands could not be observed with ultrasonography. Creatine kinase and triglyceride levels were measured to elucidate the etiology of adrenal hypoplasia and were above normal limits in both cases. Both patients required steroid and salt supplementation. They were both found to have Xp21.2 deletions (DMD, NR0B1, GK, IL1RAPL1). We conclude that AI in the context of other genetic abnormalities should prompt chromosomal investigations in the absence of another unifying explanation.

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‘Pseudohypertriglyceridemia’ caused by hyperglycerolemia due to congenital enzyme deficiency

Cited by 34 publications

References 4 publications

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

Infantile glycerol kinase deficiency— a condition requiring prompt identification

Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates

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