Related Experiment Video

Updated: Aug 14, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Abnormal fatty acid metabolism in childhood spinal muscular atrophy

T O Crawford1, J T Sladky, O Hurko

  • 1Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Annals of Neurology
|March 11, 1999
PubMed

Insights

Spinal muscular atrophy (SMA) in infants is linked to abnormal fatty acid metabolism, including increased plasma ratios and dicarboxylic aciduria during fasting. These metabolic changes may stem from the survival motor neuron gene defect, not immobility.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Abnormal fatty acid metabolism was previously observed in children with spinal muscular atrophy (SMA).
  • This study investigates fatty acid metabolism in a larger cohort of SMA patients.

Purpose of the Study:

  • To evaluate fatty acid metabolism in infants and children with varying forms of spinal muscular atrophy (SMA).
  • To determine if observed metabolic abnormalities are linked to SMA's genetic defect or secondary factors like immobility.

Main Methods:

  • Analysis of plasma fatty acid profiles in 33 infants with severe SMA, 17 with milder SMA, and control groups.
  • Assessment of urinary dicarboxylic acid excretion during fasting in severe SMA infants and controls.

Main Results:

  • Infants with severe SMA showed significantly increased plasma dodecanoic to tetradecanoic acid ratios compared to controls.
  • Severe SMA infants exhibited marked dicarboxylic aciduria during fasting, similar to primary mitochondrial beta-oxidation defects.
  • Milder SMA forms presented normal fatty acid profiles; abnormalities were not attributed to immobility or muscle atrophy.

Conclusions:

  • Spinal muscular atrophy (SMA) is associated with distinct fatty acid metabolism abnormalities, including altered plasma ratios and fasting-induced dicarboxylic aciduria.
  • These metabolic disturbances in SMA appear independent of immobility, denervation, or atrophy.
  • The findings suggest a potential link between SMA's molecular genetic defect (survival motor neuron gene) and cellular metabolic changes.

More Related Videos

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

Related Concept Videos

Overview of Fatty Acid Metabolism01:28

Overview of Fatty Acid Metabolism

Lipids also are sources of energy that power cellular processes. Like carbohydrates, lipids are composed of carbon, hydrogen, and oxygen, but these atoms are arranged differently. Most lipids are nonpolar and hydrophobic. Major types include fats and oils, waxes, phospholipids, and steroids.
Fatty acids are catabolized in a process called beta-oxidation, which takes place in the matrix of the mitochondria and converts their fatty acid chains into two-carbon units of acetyl groups. The acetyl...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Overview of Lipid Metabolism01:24

Overview of Lipid Metabolism

Lipid metabolism is a crucial process in the human body that involves the synthesis and degradation of lipids. This process is essential for energy production, cell membrane formation, and hormone production, among other functions.
Lipolysis: The Breakdown of Lipids:
Lipolysis is the process of breaking down lipids, particularly triglycerides, into glycerol and fatty acids. This process typically occurs in the adipose tissue and is triggered by various hormones, including glucagon and...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...