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).
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
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