lysinemia

Thân thiện

A doctor explains lysinemia to a patient using a medical diagram.

Definition

Noun: An inherited metabolic disorder characterized by an excess of lysine in the blood. This condition results from a deficiency of specific enzymes required to properly break down the amino acid lysine. It is associated with symptoms that can include muscular weakness and intellectual disability.

Usage

The term is used in medical and biochemical contexts to describe a specific, rare genetic condition. * The newborn screening panel tests for several metabolic disorders, including lysinemia. * Diagnosis of lysinemia involves analyzing blood plasma for elevated amino acid levels.

Advanced Usage

• Biochemical Perspective: In , the metabolic pathway for lysine degradation is blocked, leading to the accumulation of lysine and its potentially toxic byproducts in bodily fluids.
• Clinical Management: Treatment for often involves a carefully controlled diet that restricts lysine intake and includes supplemental essential amino acids.

Variants and Related Words

• Hyperlysinemia (n): A term often used interchangeably with , specifically denoting high lysine levels in the blood.
• Lysine (n): The essential amino acid whose metabolism is impaired in this disorder.
• Enzymopathy (n): A general term for a disorder caused by an enzyme deficiency, which is the underlying cause of .

Synonyms

• Hyperlysinemia (n)
• Lysine intolerance (n) (less specific)

Notes on Meaning

This is a highly specialized medical term with one primary meaning. It should not be confused with more common conditions or general dietary protein metabolism.

Học thuật

Noun

1. an inborn error of metabolism in which the lack of certain enzymes leads to an inability to metabolize the amino acid lysine; characterized by muscular weakness and mental retardation