Results: 5

1.
Figure 1

Figure 1. From: Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Biochemical pathway
Legend: This biochemical pathway shows the interrelationship of the Krebs cycle and the methylmalonate pathway as it relates to the metabolic block in this condition.

Johan L.K. Van Hove, et al. Pediatr Res. ;68(2):159-164.
2.
Figure 5

Figure 5. From: Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Comparison of the amino terminus of SUCLG1 proteins
Legend: Alignment of the predicted amino-terminal coding sequences of the SUCLG1 proteins from human, chimpanzee, rat and mouse.
* denotes M14, which is mutated in the patient. ↓ indicates the predicted mitochondrial targeting sequence cleavage site.

Johan L.K. Van Hove, et al. Pediatr Res. ;68(2):159-164.
3.
Figure 4

Figure 4. From: Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Molecular analyses
Legend: A. Sequencing of the SUCLG1 gene. The patient shows homozygosity for the c.40A>T mutation, whereas each parent shows heterozygosity for this mutation. B. Analysis of the enzyme activity in fibroblasts. C. SUCLG1 mRNA in fibroblasts of patient and control with and without incubation with emetine. D. Western blot of SUCLG1 protein shows decreased amount of normal sized peptide compared to controls. (Pat = patient, Ctr = control)

Johan L.K. Van Hove, et al. Pediatr Res. ;68(2):159-164.
4.
Figure 3

Figure 3. From: Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Pathology of the liver biopsy
Legend: A liver needle biopsy taken at age 3 months showed marked macro- and microvesicular steatosis, more marked around the portal areas, without inflammation, cholestasis or fibrosis. Hematoxylin and eosin staining, original magnification 400X, scale bar is 100 μm.

Johan L.K. Van Hove, et al. Pediatr Res. ;68(2):159-164.
5.
Figure 2

Figure 2. From: Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Brain imaging
Legend: A. Normal brain MRI at age two months. Axial T2 image at the level of the foramen of Monroe shows normal signal intensity and volume of bilateral basal ganglia, normal ventricular size and normal cerebral volume. B. Abnormal brain MRI at age 14 months. Axial T2 image at the level of the foramen of Monroe shows symmetric abnormal increased signal and volume loss in bilateral basal ganglia. There is cortical and subcortical volume loss with enlargement of the lateral and third ventricles and enlarged cerebral sulci. Myelination is normal.

Johan L.K. Van Hove, et al. Pediatr Res. ;68(2):159-164.

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