ISOVALERIC Acidemia

Summarized by Plex Health
Last Updated: 05 May 2022
acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia. "acute pancreatitis with rapid clinical improvement in a child with isovaleric acidemia.", by Mantadakis E, Chrysafis I, Tsouvala E, Evangeliou A, Chatzimichael A. fig1: (a) Abdominal ultrasound on admission. Upper abdominal transverse section showing generalized enlargement of the pancreatic gland with a slightly heterogenous parenchyma and an overall reduction in reflectivity. Peripancreatic fluid collections are also noted. (b)...

Isovaleric acidemia is a rare disorder in which the body is unable to appropriately break down a certain protein structure block. The problem is categorized as an organic acid disorder, which is a problem that results in an abnormal accumulation of specific acids understood as organic acids. Normally, the body breaks down proteins from food into smaller parts called amino acids. People with isovaleric acidemia have poor levels of an enzyme that assists break down a particular amino acid called leucine. Illness pertaining to isovaleric acidemia range from very mild to serious. In serious cases, the features of isovaleric acidemia become apparent within a few days after birth. A characteristic sign of isovaleric acidemia is unique odor of sweaty feet throughout intense ailment. In other cases, the symptoms and signs of isovaleric acidemia show up throughout childhood and might go and come over time. Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which suggests they never experience any signs or symptoms of the condition.

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