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Glycerol kinase deficiency, infantile form

Disease definition

Infantile glycerol kinase deficiency (GKD) is a severe form of GKD (see this term) 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) (see these terms) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy.

ORPHA:284408

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: E74.8
  • OMIM: 307030
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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