Glycerol kinase deficiency (GKD) is a rare disorder of glycerol metabolism.
Chromosome location: Xp12
Gene: glycerol kinase (GK)
GKD may occur as:
(1) an isolated disorder
(2) a complex disorder as a contiguous gene syndrome
(1) Avoid fasting.
(2) Provide a low-fat diet.
(3) Be prepared for a metabolic crisis triggered by a febrile illness.
Complications of the isolated form:
(1) diabetes mellitus
Concurrent disease seen with the complex form:
(1) Duchenne's muscular dystrophy
(2) adrenal insufficiency
(3) mental retardation or developmental delay
A patient may be at increased risk for acute crises:
(1) metabolic (hypoglycemia, acidosis, stupor/coma)
(2) adrenal (if adrenal insufficiency present)
Management of a crisis:
(1) Infuse glucose.
(2) Give corticosteroids if adrenal insufficiency.
(3) Manage electrolytes and pH.
(4) Treat the triggering event.
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Specialty: Endocrinology, Clinical Laboratory, Genetics