Related Experiment Video

Updated: Nov 30, 2025

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function
11:47

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on: January 22, 2017

11.0K

Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder

Parvaneh Karimzadeh1,2, Mohammad Keramatipour3, Arezou Karamzade4

  • 1Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Iranian Journal of Child Neurology
|November 16, 2020
PubMed

Insights

Succinate dehydrogenase (SDH) deficiency, a rare neurometabolic disorder, can cause developmental delays and brain issues. Early diagnosis and mitochondrial cocktail treatment led to significant improvement in a young patient.

Area of Science:

  • Neurology
  • Metabolic Disorders
  • Genetics

Background:

  • Succinate dehydrogenase (SDH) deficiency is a rare autosomal recessive neurometabolic disorder.
  • It presents with neurological deficits, developmental delay, exercise intolerance, and cardiomyopathy.

Observation:

  • A 25-month-old boy experienced developmental regression post-influenza vaccination.
  • MRI revealed white matter changes, and MRS showed a succinate peak.
  • Elevated urinary succinic acid and whole exome sequencing confirmed SDH deficiency.

Findings:

  • Confirmed SDH deficiency in a pediatric patient presenting with developmental regression and neurological abnormalities.
  • Diagnostic findings included characteristic MRI/MRS signals and elevated succinic acid levels.

Implications:

  • SDH deficiency is a treatable neurometabolic disorder that requires consideration in developmental disorders with white matter abnormalities.
  • Early diagnosis and intervention, such as mitochondrial cocktail therapy, are crucial for improving patient outcomes.

Keywords:
Developmental regressionMitochondrial disordersSuccinate dehydrogenase deficiency

More Related Videos

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase COX/SDH Double-labeling Histochemistry

Published on: November 23, 2011

37.4K
Real-Time Measurement of the Mitochondrial Bioenergetic Profile of Neutrophils09:39

Real-Time Measurement of the Mitochondrial Bioenergetic Profile of Neutrophils

Published on: June 2, 2023

2.3K

Related Concept Videos

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...
581
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
16.1K
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
17.4K
The Electron Transport Chain01:30

The Electron Transport Chain

The electron transport chain or oxidative phosphorylation is an exothermic process in which free energy released during electron transfer reactions is coupled to ATP synthesis. This process is a significant source of energy in aerobic cells, and therefore inhibitors of the electron transport chain can be detrimental to the cell's metabolic processes.
Inhibitors of the electron transport chain
Rotenone, a widely used pesticide, prevents electron transfer from Fe-S cluster to ubiquinone or Q...
19.0K
Overview of Metabolism01:40

Overview of Metabolism

Living cells constantly carry out various chemical reactions which are necessary for their proper functioning. These reactions are interlinked to one another via multiple pathways. The collection of these chemical reactions is known as metabolism.
Plant Metabolism
Sunlight, the primary source of energy in plants, is first absorbed by the chlorophyll pigments present in their leaves. Plants then use this energy to carry out photosynthesis, where water is oxidized into oxygen and carbon dioxide...
36.4K
Parkinson's Disease: Treatment01:24

Parkinson's Disease: Treatment

Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
777