Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis

Abstract

Objectives Type C pyruvate carboxylase (PC) deficiency is extremely rare, and has been described in only a few patients in literature to date. Herein, we present the case of a four-year-old patient admitted with diabetic ketoacidosis and diagnosed with type C PC deficiency based on clinical and biochemical findings. Case presentation A Turkish girl was referred to the intensive care unit at the age of three-years with a three-day history of vomiting and abdominal pain. Upon physical examination, the patient was found to be experiencing lethargy, dehydration, and Kussmaul breathing. Hyperglycemia, metabolic acidosis, and ketonemia were detected. Clinical and laboratory findings pointed to a prediagnosis of diabetic ketoacidosis. Intravenous fluid, bicarbonate, and insulin treatments were initiated. Elevated alanine and proline levels were recorded in plasma amino acid analysis, while urinary organic acid level analysis revealed increased lactate, pyruvate, 3-OH-butyrate, and acetoacetate levels. Whole exome sequencing revealed homozygous c.584C>T (p.Ala195Val) mutation in the PC gene. Conclusions To date, there have been no reports in literature of type C phenotype patients manifesting with DKA. Our case is the first case with the type C phenotype to be admitted with clinical and laboratory findings of DKA.

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis

“…3 ). Some reported PCD patients have mimicked diabetic ketoacidosis at their initial presentation, and have been treated with insulin (dose not reported) [ 23 , 24 ]. These observations support the hypothesis that insulinopenia might be clinically relevant in PCD patients in acute decompensation, and by extension, in symptomatic HLCSD patients with secondary PCD.…”

Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoin

“…Three phenotypes of PCD are recognised; types A and B present in infancy with lactic acidosis and severe neurological manifestations, and have a poor prognosis 1,2 . A rare attenuated form (type C) was first described in 1991, and only 11 patients have been reported (seven molecularly confirmed) 3–11 . It is characterised by episodic hyperlactataemia and ketoacidosis, and has a favourable outcome, with relatively mild developmental delay and variable myelination abnormalities.…”

“… 1 , 2 A rare attenuated form (type C) was first described in 1991, and only 11 patients have been reported (seven molecularly confirmed). 3 , 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 It is characterised by episodic hyperlactataemia and ketoacidosis, and has a favourable outcome, with relatively mild developmental delay and variable myelination abnormalities.…”