alpha carboxylase/povraćanje

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Dysautonomia in an infant with secondary hyperammonemia due to propionyl coenzyme A carboxylase deficiency.

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A male infant who had vomiting and coma in the absence of ketoacidosis was initially thought to have dysautonomia because of abnormal responses to methacholine and histamine, as well as abnormal urinary catecholamine excretion. Following an episode of hyperammonemia, a liver biopsy was performed

Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.

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Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities-such as hyperammonemia, metabolic acidosis, and ketosis-associated with complaints of

Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

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Two Vietnamese siblings with an isolated deficiency of 3-methylcrotonyl coenzyme A carboxylase in leucocytes and cultured fibroblasts are described. Both children excreted massive amounts of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid. There was no in vivo or in vitro biochemical response

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