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. [ ]
Term info
glycerol kinase deficiency, infantile form
ordo_clinical_subtype
http://purl.obolibrary.org/obo/Orphanet_284408
http://purl.obolibrary.org/obo/MONDO_0018459
MONDO:0017294
https://icd.codes/icd10cm/E74.8