LIPACIDURIA Meaning and
Definition
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Lipaciduria is a rare metabolic disorder characterized by the presence of abnormal amounts of lipids (fatty acids) in the urine. It is an autosomal recessive condition caused by mutations in the gene encoding lipase maturation factor 1 (LMF1), which plays a crucial role in the maturation and stability of lipase enzymes.
The excessive excretion of lipids in the urine is due to impaired lipase activity, specifically affecting the hydrolysis of triglycerides from dietary fat in the intestines. As a result, individuals with lipaciduria experience difficulty in digesting and absorbing dietary fats, leading to their accumulation and eventual excretion in the urine.
The main clinical features of lipaciduria include significant fat malabsorption, resulting in chronic diarrhea, foul-smelling stools (steatorrhea), and malnutrition. Affected individuals may also exhibit failure to thrive, stunted growth, and various vitamin deficiencies, particularly vitamins A, D, E, and K, which are fat-soluble vitamins.
Diagnosis of lipaciduria involves urine analysis, which reveals the presence of increased levels of lipids or lipid breakdown products. Genetic testing can confirm the underlying mutation in the LMF1 gene. Treatment primarily focuses on a specialized diet that limits fat intake and replaces fat-soluble vitamins to address deficiencies. Digestive enzyme supplements may also be prescribed to aid in the absorption of fats.
Overall, lipaciduria is a rare genetic disorder that impairs the metabolism of lipids, resulting in their excessive excretion in the urine and causing digestive and nutritional complications.
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The presence of fatty acids in the urine.
A practical medical dictionary. By Stedman, Thomas Lathrop. Published 1920.
Common Misspellings for LIPACIDURIA
- kipaciduria
- pipaciduria
- oipaciduria
- lupaciduria
- ljpaciduria
- lkpaciduria
- lopaciduria
- l9paciduria
- l8paciduria
- lioaciduria
- lilaciduria
- li-aciduria
- li0aciduria
- lipzciduria
- lipsciduria
- lipwciduria
- lipqciduria
- lipaxiduria
- lipaviduria
- lipafiduria
Etymology of LIPACIDURIA
The term "lipaciduria" is derived from three different components:
1. "Lip-", which comes from the Greek word "lipos", meaning "fat" or "lipid".
2. "Acid-", derived from the Latin word "acidus", meaning "sour" or "acidic".
3. "-uria", a suffix indicating "presence of a substance in the urine" and derived from the Greek word "ouron", meaning "urine".
Therefore, lipaciduria refers to the presence of lipids or fatty acids in the urine.
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