Related Experiment Video

Updated: Aug 7, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Carbamyl phosphate synthase deficiency: diagnosed during pregnancy in a 41-year-old

G Eather1, D Coman, C Lander

  • 1Department of Neurology, The Royal Brisbane Hospital, Brisbane, Australia.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
|July 25, 2006
PubMed

Insights

Carbamyl phosphate synthase deficiency (CPS) is a rare urea cycle disorder. This case report details the oldest patient diagnosed with CPS deficiency during pregnancy, emphasizing metabolic disorder awareness in adults.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Urea cycle defects are rare genetic disorders affecting nitrogen metabolism.
  • Carbamyl phosphate synthase (CPS) deficiency is an uncommon urea cycle disorder.

Observation:

  • A 41-year-old woman was diagnosed with CPS deficiency during pregnancy.
  • This represents the oldest reported patient diagnosed with CPS deficiency at the time of diagnosis.
  • This is the first reported case of CPS deficiency diagnosed during pregnancy.

Findings:

  • The patient's diagnosis during pregnancy highlights a unique clinical presentation.
  • The case expands the known age range for CPS deficiency diagnosis.

Implications:

  • This case underscores the importance of considering inborn errors of metabolism in adult patients with atypical neurological and psychiatric symptoms.
  • Increased awareness may lead to earlier diagnosis and improved management of rare metabolic disorders in adults.
  • Pregnancy can unmask or exacerbate underlying metabolic conditions, necessitating specialized diagnostic approaches.

More Related Videos

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

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...
Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...