Complex glycerol kinase deficiency. Glycerol kinase deficiency with adrenal hypoplasia without and with Duchenne muscular dystrophy (DMD)
Incidence
Some 30 cases have been reported. Due to contiguous deletion of Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita and/or Duchenne muscular dystrophy.
Clinical Characteristics
It is a X-linked disorder (nearly all pts. are males). FTT and short stature, abnormal genitalia like cryptorchidia & anorchia. Spasticity with weakness, and repetitive "handwashing" like in pts. with Rett syndrome. Addisonian pigmentation. Electrolyte imbalances. Developmental delay, X ray = osteoporosis.Dysmorphic facies:"hourglass" appearence of midface, hypertelorism, rounded palpebral fissures, esotropia, flat ears, downturned mouth. Hypotonia.
Precipitants
no
Provocation Tests
ACTH administration produce a subnormal response of serum cortisol levels.
Diagnostic Procedures
EB-F, EB-W, OB-F, DB-F. Chromosomal analysis (deletion). Pseudohypertriglyceridemia, High CPK. Glyceroluria & hyperglycerolemia, very "high" triglycerides levels.