Related Experiment Video
Updated: Aug 9, 2026
07:45
An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]
O Hussmann1, D Haas, B A Neubauer
1Abteilung für Neuropädiatrie und Sozialpädiatrie, Universitätsklinikum Giessen. Olaf.Hussmann@paediat.med.uni-giessen.de
Klinische Padiatrie
|March 1, 2006
Summary
L-2-hydroxyglutaric aciduria is a rare metabolic disorder causing macrocephaly and neurological issues. Early diagnosis is crucial for managing this condition in children presenting with developmental delays.
Area of Science:
- Biochemistry
- Neurology
- Pediatrics
Background:
- Macrocephaly and school problems in children can indicate rare metabolic disorders.
- L-2-hydroxyglutaric aciduria is an inherited metabolic condition with limited documented cases.
Observation:
- A 9-year-old girl presented with progressive macrocephaly and academic difficulties.
- Neurological assessment revealed mild cerebellar dysfunction and pyramidal tract signs.
- Brain MRI showed widespread white matter signal abnormalities.
Findings:
- Biochemical analysis confirmed the diagnosis of L-2-hydroxyglutaric aciduria.
- This condition was identified as the underlying cause of the patient's macrocephaly.
Implications:
- Highlights the importance of considering L-2-hydroxyglutaric aciduria in the differential diagnosis of pediatric macrocephaly.
- Emphasizes the need for biochemical screening in children with unexplained neurological and developmental symptoms.
- Underscores the value of advanced neuroimaging in identifying white matter changes associated with metabolic disorders.
Related Concept Videos
01:22Lysosomal Hydrolases
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
01:27Glucose Transporters
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
01:21Overview 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...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
01:20Inborn 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...
01:29Hyperglycemia
Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...
01:29Hepatic Encephalopathy
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...