[MIM 300 679]

(complex deficiency in glycerol-kinase)

Formerly know as Mideleltion Xp21.

Very rare. X-linked recessive transmission. The deletion of the middle part of the short arm of the X chromosome (Xp21) can cause the association of several pathologies, the genes of which are contiguous:

-        Duchenne dystrophinopathy (see this term)

-        glycerol kinase deficiency: hyperglycerolemia with glyceroluria, psychomotor retardation (see this term)

-        adrenal failure caused by congenital adrenal hypoplasia (see Addison disease)

-        and very rarely: a deficiency in ornithine transcarbamyl-transferase, an anomaly of the urea cycle (see this term)

Clinical presentation: presence, in the neonatal period, of hypoglycemic episods, hypotonia and/or acute adrenal failure. Facial dysmorphism is present with hypertelorism, alternating strabism, rounded palpebral fissures and wide flattened earlobes.

Anesthetic implications:

there are opposing because one must, at the same time, avoid using halogenated agents (risk of rhabdomyolysis) and/or a continuous propofol infusion (the vehicle of which contains glycerol, with a theoretical risk of glycerol overload, and subsequent hyperglycerolemia and interference with mitochondrial function). Short fasting period or glucose-containing IV infusion started early in the preoperative fasting period. Replacement therapy for perioperative needs in corticosteroids and mineralocorticoids. Eye protection. One case has been reported with pentothal and ketamine successfully associated  with lumbar epidural analgesia.

References:

-        Scheurle A, Greenberg F, McCabe ERB.
Dysmorphic features in patients with complex glycerol kinase deficiency.
J Pediatr 1995; 126: 764-7.

-        Sehgal A, Stack J.
Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.
Indian J Pediatr 2005; 72: 67-9

-        Van Obbergh LJ, Corteel J, Papadopoulos J, Aunac S.
Anesthesia for a child suffering from a deletion in the Xp21 loci resulting in Duchenne disease, glycerol kinase deficiency and congenital adrenal hypoplasia.
Pediatr Anesth 2011; 21: 1085-7.

-        Marlhens F, Chelly J, Kaplan JC, Lefrançois D, Harpey JP, Dutrillaux B.
Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia.
Hum Genet 1987; 77: 379-83.

-        Backes JM, Dayspring TD, Hoefner DM, Contois JH et al. 
Identifying pseudohypertriglyceridemia in clinical practice. 
Clinical Lipidology 2014;  9: 625-41 

-        Rossell  B, Godart J, Petyt C, Veyckemans F.
Complex Glycerol Kinase deficiency (Xp21 Deletion syndrome): a case report of a contiguous gene disorder necessitating creative anesthetic planning.
A &A Practice 2020; 14: in press

Updated: September 2020