Hypoketotic hypoglycemic coma in a 21-month-old child.
We present the case of a 21-month-old child with hypoketotic hypoglycemic coma. The differential diagnosis initially included metabolic causes versus a toxicologic emergency (unripe ackee fruit poisoning). Using information obtained from the emergency department, the diagnosis was confirmed as the late-onset form of glutaric acidemia type II. This case illustrates the importance of emergency physicians in the diagnosis and management of children with inborn errors of metabolism.
Hostetler
M A
MA
Department of Emergency Medicine, University of Rochester Strong Memorial Hospital, Rochester, NY, USA.
Arnold
G L
GL
Mooney
R
R
Bennett
M J
MJ
Rinaldo
P
P
Roe
C R
CR
D000138:Acidosis / Q000209:etiology*; D017668:Age of Onset; D000465:Algorithms; D000592:Amino Acid Metabolism, Inborn Errors / Q000145:classification / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy; D003128:Coma / Q000209:etiology*; D003663:Decision Trees; D003937:Diagnosis, Differential; D004638:Emergency Treatment / Q000379:methods; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D005260:Female; D005440:Fluid Therapy; D005977:Glutarates / Q000378:metabolism*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000145:classification / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy
D005977:Glutarates; D044943:Fatty Acid Desaturases; C035736:glutaric acid