Why Do Children With Propionic Acidemia Or Urea Cycle Disorders Rarely Show Autistic Behavior?

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Why Do Children With Propionic Acidemia Or Urea Cycle Disorders Rarely Show Autistic Behavior?

Derrick MacFabe’s hypothesis that propionic acid generated by gut bacteria induces autism [1], while compelling, leaves one question largely unanswered: Why do children with inborn propionic acidemia rarely show autistic behavior? Although exacerbations of Propionic Acidemia (PA) bear “some resemblance” to autism spectrum disorders (ASD), MacFabe noted, only one case of autism associated with P...

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A Newborn with Propionic Acidemia Mimicking Urea Cycle Defect

Neonatal-onset propionic acidemia is the most common form of disorder. A 9-days old new born admitted to our hospital with lethargy suggested urea cycle defect at first look due to lack of metabolic acidosis, normal ketone and anion gap in laboratory evaluations. The case mimicking urea cycle defect, which was diagnosed as neonatal-onset propionic acidemia by specific tests, was presented becau...

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Secondary Hemophagocytosis in Propionic Acidemia

1Department of Pediatric Metabolism and Nutrition, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 2Pediatric Intensive Care Unit, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 3Department of Pediatric Hematology and Oncology, Diyarbakir Children’s Hospital, Diyarbakir, Turkey 4Department of Pediatric Endocrinology, Diyarbakır Children’s Hospital, Diyarbakir, Turkey 5Department of Pedia...

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Natural history of propionic acidemia.

Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...

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Atypical presentations of propionic acidemia

One of the most common recessively inherited organic acidemias is the Propionic Acidosis (PA) which results from Propionyle-CoA Carboxylase (PCC) enzyme deficiency that is necessary for the catabolism of the branched chain Amino Acids and other metabolites. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We report 4 patients who presente...

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ژورنال

عنوان ژورنال: Autism-Open Access

سال: 2014

ISSN: 2165-7890

DOI: 10.4172/2165-7890.1000134