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


General management:

(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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