Related Experiment Video
Updated: Mar 20, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.6K
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Sunnie Yan-Wai Wong1, Lesa J Beamer2, Therese Gadomski1
1Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA.
The Journal of Pediatrics
|May 22, 2016
Summary
Researchers defined phosphoglucomutase-1 deficiency (PGM1-CDG) patient groups and identified key predictors of disease severity. Five clinical features, including congenital malformation and cardiac involvement, predict PGM1-CDG severity.
Area of Science:
- Biochemistry
- Genetics
- Clinical Medicine
Background:
- Phosphoglucomutase-1 deficiency (PGM1-CDG) is a rare metabolic disorder.
- Understanding phenotypic variability and disease severity predictors is crucial for patient management.
Purpose of the Study:
- To define distinct phenotypic groups in patients with PGM1-CDG.
- To identify clinical features that predict disease severity in PGM1-CDG.
Main Methods:
- Evaluation of 27 PGM1-CDG patients categorized into three phenotypic groups.
- Validation of group assignment using the Tulane PGM1-CDG Rating Scale (TPCRS).
- Regression and principal component analysis to assess genotype, enzyme activity, and clinical feature associations with disease severity.
Main Results:
- A statistically significant stratification of TPCRS scores was observed among phenotypic groups (P < .001).
- No significant correlation was found between genotype, enzyme activity, and TPCRS score.
- Principal component analysis identified five key predictors of disease severity: congenital malformation, cardiac involvement, endocrine deficiency, myopathy, and growth, accounting for 54% of the variance.
Conclusions:
- A reliable scoring algorithm, the TPCRS, was established to evaluate PGM1-CDG disease severity.
- Five clinical features were identified as predictors of disease severity.
- Two identified predictors are assessable via physical examination, enabling rapid assessment and timely therapeutic intervention.
Related Concept Videos
01:20Inborn Errors of Metabolism
995
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...
995
01:35Pedigree Analysis
90.5K
Overview
90.5K
01:27Glucose Transporters
28.0K
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:
28.0K
01:22Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
249
In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
249
01:22Lysosomal Hydrolases
4.7K
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,...
4.7K
01:43Incomplete Dominance
32.3K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.3K