Related Experiment Video
Updated: Jun 23, 2026
08:33
Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
Published on: March 24, 2019
Galactosemia with chorea--an unusual presentation
Parvaiz A Shah1, Faiz A Kuchhai
1Neurology Division, Department of internal Medicine, Government Medical College and Associated S.M.H.S. Hospital, Srinagar, Kashmir, J&K, India. parvaizshah11@rediffmail.com
Indian Journal of Pediatrics
|April 25, 2009
Summary
Galactosemia, a metabolic disorder, causes severe neurological issues. This study highlights chorea as a previously unreported infantile symptom of galactosemia.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Galactosemia is an inherited metabolic disorder.
- It stems from deficient galactose-1-phosphate uridyltransferase activity.
- This deficiency disrupts normal galactose metabolism.
Observation:
- Galactosemia presents with central nervous system manifestations.
- Symptoms include hypotonia, seizures, intellectual disability, tremor, and ataxia.
- Progressive cerebellar and extrapyramidal signs are also observed.
Findings:
- Chorea, a movement disorder, is a newly identified symptom in infantile galactosemia.
- This finding expands the known clinical spectrum of the disease.
Implications:
- Early identification of chorea can aid in diagnosing galactosemia.
- This knowledge may improve patient outcomes through timely intervention.
- Further research into galactosemia's neurological impact is warranted.
Related Concept Videos
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...
01:27Glucose 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:
01:21Hyperosmolar Hyperglycemic State
Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
01:19Type I Diabetes III: Clinical Manifestations
Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
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,...
01:05Proteoglycans
Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...