Challenges in the management of an ignored cause of hyperammonemic encephalopathy: pyruvate carboxylase deficiency
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DOI: 10.1515/jpem-2019-0307
Abstract: Abstract Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes. Type B PC deficiency is characterized by lactic acidosis and hyperammonemia. We report a Turkish patient who… read more here.
Keywords: management; deficiency; carboxylase deficiency; pyruvate carboxylase ... See more keywords
Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis
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DOI: 10.1515/jpem-2020-0646
Abstract: 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… read more here.
Keywords: deficiency; pyruvate carboxylase; carboxylase deficiency; diabetic ketoacidosis ... See more keywords
Multiple Carboxylase Deficiency Organic Acidemia as a Cause of Infantile Seizures.
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DOI: 10.29271/jcpsp.2021.01.95
Abstract: Multiple carboxylase deficiency organic Acidemia is a rare inherited metabolic disorder. It is autosomal recessive disorder of two types: Holocarboxylase deficiency and Biotinidase deficiency. It is the metabolic disorder resulting from deficiency of biotin as… read more here.
Keywords: multiple carboxylase; organic acidemia; carboxylase; deficiency organic ... See more keywords
Biotin-responsive Multiple Carboxylase Deficiency (MCD).
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DOI: 10.29271/jcpsp.2022.06.823
Abstract: This study aimed to determine the clinical spectrum and biochemical findings on urine organic acids (UOA) in Biotin-responsive multiple carboxylase deficiency (MCD) patients presenting to the biochemical genetics laboratory (BGL). Patients reported as MCD, from… read more here.
Keywords: multiple carboxylase; biotin responsive; carboxylase deficiency; responsive multiple ... See more keywords