Related Experiment Video

Updated: Oct 10, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

8.2K

A case of prolidase deficiency in a male patient

Courtney N Haller1, Jaya K George-Abraham2, Rosemary G Peterson3

  • 1Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA.

Pediatric Dermatology
|December 10, 2021
PubMed

Insights

Prolidase deficiency is a rare genetic disorder affecting collagen. This case highlights its skin symptoms and the need for early, multidisciplinary care.

Area of Science:

  • Biochemistry
  • Genetics
  • Dermatology

Background:

  • Prolidase deficiency is an extremely rare autosomal recessive disorder.
  • It leads to impaired collagen synthesis and processing.
  • This condition necessitates a comprehensive understanding of its genetic and biochemical basis.

Observation:

  • A case study of a male child with prolidase deficiency is presented.
  • The report focuses on the significant dermatologic manifestations observed.
  • Clinical presentation included characteristic skin findings associated with the disorder.

Findings:

  • The patient exhibited specific dermatologic features indicative of prolidase deficiency.
  • Defective collagen formation was a key pathological finding.
  • The case underscores the visible impact of the enzyme deficiency on connective tissues.

Implications:

  • Early diagnosis of prolidase deficiency is crucial for timely intervention.
  • Multisystem comorbidities are common and require specialized medical attention.
  • Prompt, multidisciplinary care can improve patient outcomes and manage associated health issues.

Keywords:
amino acid metabolism, inborn errorsdermatologypediatricsprolidase deficiencyskin diseases, genetic

More Related Videos

A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK908:14

A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9

Published on: August 28, 2018

8.3K
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells06:20

Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells

Published on: May 7, 2020

7.2K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
86.0K
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...
300
Overview of Protein Metabolism01:21

Overview 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...
2.2K
Lysosomal Hydrolases01:22

Lysosomal 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,...
4.0K