Background and aim To describe current diagnostic and therapeutic strategies in organic
acidurias (OADs) and to evaluate their impact on the disease course allowing …

Neurological manifestations are very common and can be the leading and/or presenting
feature in organic acid disorders, sometimes in the absence of metabolic derangement …

Organic acidurias (OADs) comprise a biochemically defined group of inherited metabolic
diseases. Increasing awareness, reliable diagnostic work‐up, newborn screening programs …

Branched chain organic acidurias are a group of disorders that result from an abnormality of
specific enzymes involving the catabolism of branched chain amino acids (leucine …

Objectives: Identify the etiology of hyperammonemia. Describe the presentation of a patient
with hyperammonemia. Outline the management options available for hyperammonemia …

Objectives To report the clinical manifestations of acute hyperammonemic encephalopathy
in adult onset ornithine transcarbamylase deficiency (OTCD). Design Case report. Setting …

A symptomatic elevation in plasma ammonium concentration, termed hyperammonemia, is
associated with numerous congenital and acquired conditions (Table 11). In some cases …

Background: Organic acidemias (OA) are a group of heterogeneous metabolic inherited
disorders characterized by the accumulation of organic acids in body fluids and tissues …

Pediatricians know that inborn errors of metabolism (IEM) require early diagnosis and early
treatment to prevent permanent neurologic damage. 1 Most patients present acutely in the …

A 50-year-old man was transferred to the intensive care unit with high anion gap metabolic
acidosis. Investigations suggested a diagnosis of pyroglutamic acidaemia. Factors …