Volume : VII, Issue : X, October - 2017
PROPIONIC ACIDEMIA ACCOMPANIED BY HYPERGLYCEMIA
Fatma Demet Arslan, Merve Zeytinli Aksit, Melis Demir Kose, Ozkan Ilhan, Aybike Hast Rk, Figen Isleten
Abstract :
A healthy male baby was born at term, which was the mother’s first pregnancy and first live birth. The child had rapid respiration, absence of suckling, and jaundice on the third day following delivery. The family history revealed parental consanguinity. The general status of the baby was poor, and he was pale and icteric. His physical examination revealed weakening of the neonatal reflexes, signs of hypotonicity, dehydration, tachypnea, and Kussmaul respiration. The patient was hospitalized in the neonatal follow–up clinic with a pre–diagnosis of sepsis. His laboratory analyses revealed metabolic acidosis, hyperglycemia, ketonuria, and hyperammonemia. The blood levels of C3–propionylcarnitine were high. An investigation of the urinary organic acids revealed high levels of 3–OH propionic acid, 3–OH isovaleric acid, propionylglycine, and methylcitrate. In light of these results, the patient was diagnosed as propionic acidemia. Hyperglycemia is rarely seen in propionic acidemia. Organic acidemias must be kept in mind if hyperglycemia and metabolic ketoacidosis are accompanied by hyperammonemia, if clinical improvement cannot be maintained despite proper treatment, and if family history reveals parental consanguinity or unexplained infant death.
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DOI : 10.36106/ijar
Cite This Article:
Fatma Demet Arslan, Merve Zeytinli Aksit, Melis Demir Kose, Ozkan Ilhan, Aybike Hastürk, Figen Isleten, PROPIONIC ACIDEMIA ACCOMPANIED BY HYPERGLYCEMIA, INDIAN JOURNAL OF APPLIED RESEARCH : Volume-7 | Issue-10 | October-2017
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Fatma Demet Arslan, Merve Zeytinli Aksit, Melis Demir Kose, Ozkan Ilhan, Aybike Hastürk, Figen Isleten, PROPIONIC ACIDEMIA ACCOMPANIED BY HYPERGLYCEMIA, INDIAN JOURNAL OF APPLIED RESEARCH : Volume-7 | Issue-10 | October-2017
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