Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Propionic acidemia: one case report].

L Yuan1

  • 1Institute of Basic Medical Sciences, Beijing.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
|April 1, 1991
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Observation of Top Quark Production in Proton-Nucleus Collisions.

Physical review letters·2017
Same author

[Hypoxia inducible factor-1α deSUMOylation reduces the stemness maintenance ability of endometrial cancer stem cell and increases its chemosensitivity].

Zhonghua yi xue za zhi·2017
Same author

Measurements of the production cross section of a [Formula: see text] boson in association with jets in <i>pp</i> collisions at [Formula: see text] TeV with the ATLAS detector.

The European physical journal. C, Particles and fields·2017
Same author

[Comparative study on the efficacy and safety between pegfilgrastim (PEG-rhG-CSF) and recombinant human granulocyte colony-stimulating factor in promoting hematopoietic recovery after allogeneic hematopoietic stem cell transplantation after hematological malignancy].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi·2017
Same author

Phylogenetic and genetic variation analyses of porcine circovirus type 2 isolated from China.

Transboundary and emerging diseases·2017
Same author

[Research advances in the role of the Hippo signaling pathway in pathogenesis of liver cancer].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology·2017
Same journal

Splenic Angiosarcoma Misdiagnosed as PrimaryMyelofibrosis: Report of Two Cases and a Literature Review.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
Same journal

Anesthetic Management for Epicardial Pacemaker Implantation in An Adult Patient With Uncorrected Functional Single Ventricle:A Case Report.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
Same journal

Magnetic Resonance Imaging Combined With Ultrasonography for Early Diagnosis of Complete Hydatidiform Mole With Coexisting Fetus: Report of One Case.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
Same journal

Prospects for China's Pharmaceutical Industry Development During the 15th Five-Year Plan Period.

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
Same journal

[Comparison of Imaging Efficacy and Patient Tolerability Between a Novel Cellulose-Based anda Conventional Starch-Based Oral Contrast Agent: A Prospective Randomized Controlled Trial].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
Same journal

[Application Value of Super-Resolution Ultrasound Imaging in the Diagnosisof American College of Radiology Thyroid Imaging Reporting and Data System Category 4 and 5 Thyroid Nodules].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae·2026
See all related articles

This case report details propionic acidemia, a metabolic disorder. Diagnosis was confirmed by identifying specific organic acids in urine, despite normal serum propionic acid levels.

Area of Science:

  • Biochemistry
  • Metabolic Disorders
  • Pediatric Medicine

Background:

  • Propionic acidemia is an inherited metabolic disorder affecting amino acid metabolism.
  • It is caused by deficiency in propionyl-CoA carboxylase, leading to accumulation of toxic metabolites.

Observation:

  • A patient presented with recurrent vomiting, ketosis, and seizures.
  • Serum propionic acid and glycine levels were normal.
  • Blood ammonia was mildly elevated.

Findings:

  • Urine analysis revealed characteristic organic acid metabolites, including 3-hydroxypropionic acid, propionylglycine, methyl-citric acid, tiglyglycine, and 3-hydroxyvaleric acid.
  • These findings confirmed the diagnosis of propionic acidemia.

Implications:

Related Experiment Videos

  • This case highlights the importance of urine organic acid analysis for diagnosing propionic acidemia, especially when serum markers are inconclusive.
  • Early diagnosis and management are crucial for preventing severe neurological complications.