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Updated: Dec 11, 2025

Author Spotlight: Establishing MASLD Cell Models for Investigating Disease Mechanisms and the Lipid-Lowering Effects of Koumiss
Published on: July 19, 2024
[INBORN ERRORS OF FATTY ACID METABOLISM (REVIEW)]
G Zharmakhanova1, L Syrlybayeva1, E Nurbaulina
1department of molecular biology and medical genetics, Kazakhstan.
Abstract:
The review summarizes the current knowledge about inborn errors of fatty acid metabolism (disorders of carnitine transport and mitochondrial fatty acid oxidation), characterized by high mortality, predominant damage of the central nervous system, heart, liver and skeletal muscles. The article presents the main clinical genetic features of diseases this group. After the introduction of newborn screening using the tandem mass-spectrometry (MS/MS), early identification of fatty acid metabolism defects became possible. Using of MS/MS method is promising for mass newborn screening. Early identification and accordingly timely initiated treatment prevents unfavorable outcome. Moreover, a specified medical-genetic diagnosis allows further prenatal diagnosis of pathology in subsequent pregnancies.
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