Isolated Hyperckemia

Isolated hyperCKemia
Other names	Asymptomatic hyperCKemia
Specialty	Medical genetics
Symptoms	None other than high levels of creatine kinase in the blood
Complications	None
Usual onset	Birth
Duration	Life-long
Causes	Genetic mutation
Diagnostic method	Genetic testing
Prevention	none
Medication	None required
Prognosis	Good
Frequency	Unknown, since almost all cases are asymptomatic

Isolated hyperCKemia is a benign^[1] genetic disorder which is characterized by high levels of creatine kinase (an enzyme) in the blood, usually, levels of CK in the blood of people with this disorder are 3 to 10 times higher than average. Unlike what most people experience when their CK blood levels are high,^[2] people with this disorder don't experience any symptoms, less commonly, people with isolated hyperCKemia have microscopic muscle cell abnormalities. This condition is a type of caveolinopathy since it is associated with the CAV3 gene, in chromosome 3.^[3]^[4] Although it is asymptomatic, people with this variant of hyperCKemia have an elevated risk of suffering from malignant hyperthermia.^[5]

References

↑ Klinis, Spyridon; Symeonidis, Athanasios; Karanasios, Dimitrios; Symvoulakis, Emmanouil K. (2017-01-01). "Asymptomatic hyperCKemia during a two‑year monitoring period: A case report and literature overview". Biomedical Reports 6 (1): 79–82. doi:10.3892/br.2016.822. ISSN 2049-9434. PMID 28123712.
↑ "HyperCKemia" (in en). https://practicalneurology.com/articles/2019-aug-july/hyperckemia.
↑ "Isolated hyperCKemia: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/isolated-hyperckemia/.
↑ "VSource". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599.
↑ Rubegni, Anna; Malandrini, Alessandro; Dosi, Claudia; Astrea, Guja; Baldacci, Jacopo; Battisti, Carla; Bertocci, Giulia; Donati, M. Alice et al. (2019-08-16). "Next-generation sequencing approach to hyperCKemia". Neurology: Genetics 5 (5): e352. doi:10.1212/NXG.0000000000000352. ISSN 2376-7839. PMID 31517061.

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[1] Klinis, Spyridon; Symeonidis, Athanasios; Karanasios, Dimitrios; Symvoulakis, Emmanouil K. (2017-01-01). "Asymptomatic hyperCKemia during a two‑year monitoring period: A case report and literature overview". Biomedical Reports 6 (1): 79–82. doi:10.3892/br.2016.822. ISSN 2049-9434. PMID 28123712.

[2] "HyperCKemia" (in en). https://practicalneurology.com/articles/2019-aug-july/hyperckemia.

[3] "Isolated hyperCKemia: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/isolated-hyperckemia/.

[4] "VSource". https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599.

[5] Rubegni, Anna; Malandrini, Alessandro; Dosi, Claudia; Astrea, Guja; Baldacci, Jacopo; Battisti, Carla; Bertocci, Giulia; Donati, M. Alice et al. (2019-08-16). "Next-generation sequencing approach to hyperCKemia". Neurology: Genetics 5 (5): e352. doi:10.1212/NXG.0000000000000352. ISSN 2376-7839. PMID 31517061.