A rare cause of Hypertriglyceridemia- Glycerol Kinase Deficiency

Qudrat Marwat (Specialty Registrar- Endocrinology and Diabetes Mellitus)

Ryizan Nizar (Consultant-Endocrinology and Diabetes Mellitus)

Introduction:
Glycerol kinase deficiency (GKD) also known as Hyperglycerolemia, is a
genetic disorder where the enzyme glycerol kinase is deficient resulting in
a build-up of glycerol in the body. Glycerol kinase is responsible for
synthesizing triglycerides and glycerophospholipids in the body.

GKD may present with the abnormality of metabolism/homeostasis, cognitive deficit,

EMG abnormality, muscular hypotonia and myopathy, neurological speech
impairment, primary adrenal insufficiency, short stature, cryptorchidism, EEG
abnormality, lumbar hyper lordosis, reduced bone mineral density, scoliosis, seizures
abnormal facial shape, and adrenal insufficiency. Adrenal insufficiency is associated
with the genetic disease- x-linked congenital adrenal hypoplasia If the glycerol
kinase gene is deleted then the NROB1 gene is also often deleted, which causes X-
linked adrenal hypoplasia congenita.

Case Presentation:
We report the case of a 41-year-old Caucasian male, who
was flagged up to the Endocrine team by Cardiologist
colleague for abnormal lipid profile. He has a background
history of Gene deletion on X chromosome, Congenital
adrenal hypoplasia, Undescended testes corrected in
1996, Hypogonadism secondary to the above, Baker’s
muscular dystrophy, Glycerol kinase deficiency, Epilepsy,
Cardiomyopathy, Mild renal impairment – under the
nephrologist.

His total cholesterol was normal at 3.64 mmol/L however

triglycerides were elevated at 13.42 mol/L.

He was started on Fenofibrate therapy to lower his

triglycerides level and after few months of therapy his
triglycerides remain elevated.
Genetic testing showed that he had Glycerol Kinase
Deficiency which gives rise to falsely elevated
triglycerides level.