glycerol kinase deficiency, infantile form
Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.
MONDO:0018459
isolated glycerol kinase deficiency
excluded_subClassOf
MONDO:0010613
inborn glycerol kinase deficiency
is_a
MONDO:0019225
disorder of gluconeogenesis
is_a