Glycerol kinase deficiency, infantile form

MONDO:0017294

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.

24 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Glucose metabolism disease (54) Inborn errors of metabolism (42) Human disease (14) Carbohydrate metabolism disease (3) Disease of genetic or genomic mechanism (2) Inborn carbohydrate metabolic disorder (2) Disease by developmental or physiological process (0)

Trials to join now! 13 Not yet recruiting 3 Not yet finished but already full! 3 Completed 5

Glycerol kinase deficiency, infantile form

Broader categories

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Study on COVID-19 and metabolic disorders pulled before it began