Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia

Related Experiment Video

Updated: Oct 30, 2026

Cerebellar Regional Dissection for Molecular Analysis
08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

S Worthington1, S Arbuckle, P Nelson

  • 1Department of Clinical Genetics, New Children's Hospital, Parramatta, New South Wales, Australia.

Journal of Paediatrics and Child Health
|March 4, 1998
PubMed

Insights

This study reports the first Australian case of carbohydrate-deficient glycoprotein syndrome Type I (CDG I). Early diagnosis is crucial for managing this genetic disorder and its neurological implications.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Carbohydrate-deficient glycoprotein syndrome Type I (CDG I) is a rare inherited metabolic disorder.
  • It results from defects in the synthesis of complex carbohydrates attached to proteins.
  • CDG I can lead to significant neurological and developmental abnormalities.

Observation:

  • Presents the first confirmed case of CDG I in Australia.
  • An infant exhibited clinical findings suggestive of CDG I, including cerebellar hypoplasia.
  • Biochemical investigations revealed characteristic abnormalities.

Findings:

  • Enzymatic confirmation of CDG I was achieved through an abnormal transferrin isoform pattern.
  • Reduced phosphomannomutase levels were identified in skin fibroblasts.
  • The case highlights CDG I as a cause of pediatric cerebellar hypoplasia.

Implications:

  • Emphasizes the need for increased pediatrician awareness of CDG I in Australia.
  • Early diagnosis is critical for understanding prognostic and genetic implications.
  • Suggests CDG I may be underdiagnosed in the Australian pediatric population.

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...
Type I Diabetes II: Pathophysiology01:26

Type I Diabetes II: Pathophysiology

Type 1 diabetes mellitus arises from an immune-mediated destruction of pancreatic β-cells, resulting in an absolute deficiency of insulin. This process develops in genetically susceptible individuals when autoimmunity, environmental exposures, and immunologic dysregulation converge to trigger a targeted attack on the insulin-producing cells of the pancreas. The β-cells are located within the islets of Langerhans and are essential for regulating blood glucose by facilitating cellular uptake of...
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1 diabetes is an...
Cerebral Edema ll: Pathophysiology01:22

Cerebral Edema ll: Pathophysiology

Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this barrier loses...
Glucose Transporters01:27

Glucose 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:
Type I Diabetes III: Clinical Manifestations01:19

Type 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...