Propionic Acidemia

Description

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Propionic Acidemia

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Hepatomegaly
  • Fever

And another 50 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PROPIONIC ACIDEMIA have a estimated prevalence of 0.2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Propionic Acidemia Is also known as glycinemia, ketotic, ketotic hyperglycinemia, propionyl-coa carboxylase deficiency, propionic aciduria, pcc deficiency, hyperglycinemia with ketoacidosis and leukopenia.

Researches and researchers

Doctors, researchs, and experts related to Propionic Acidemia extracted from public data.

Propionic Acidemia Experts map



Current Researchs and researchers

  • BELGRADE — Dr Maja STOJILJKOVIC

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Institute of Molecular Genetics and Genetic Engineering
    • Research area/topic::

      Molecular basis of organic acidurias in Serbia: searching for new mutations


  • CANTOBLANCO — Dr Belén PÉREZ GONZÁLEZ

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Universidad Autónoma de Madrid. Facultad de Ciencias
    • Research area/topic::

      Molecular basis of organic acidurias in Serbia: searching for new mutations


  • CANTOBLANCO — Dr Lourdes DESVIAT

    Investigator of research project

    • Institution/s:
      — Universidad Autónoma de Madrid. Facultad de Ciencias
      — CBMSO - Centro de Biología Molecular Severo Ochoa
    • Research area/topic::

      Propionic acidemia: from models and mechanisms to biomarkers and therapies


  • MADRID — Pr Mercedes MARTÍNEZ-PARDO CASANOVA

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Hospital Universitario Ramón y Cajal
    • Research area/topic::

      Propionic acidemia: a study which has the aim of optimising its nutritional treatment, metabolic control and quality of life



Mendelian

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Propionic Acidemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
PCCB Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCCB
Specificity
100 %
Genes
50 %
PCCB Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PCCB
Specificity
100 %
Genes
50 %
PCCB Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCCB
Specificity
100 %
Genes
50 %
PCCB Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCCB
Specificity
100 %
Genes
50 %
Propionic Acidemia Deletion/Duplication Panel.

By Baylor Miraca Genetics Laboratories (United States).

PCCA, PCCB
Specificity
100 %
Genes
100 %
Propionic Acidemia Panel.

By Baylor Miraca Genetics Laboratories (United States).

PCCA, PCCB
Specificity
100 %
Genes
100 %
Propionic Acidemia Comprehensive Panel (Sequencing and Deletion/Duplication Analysis).

By Baylor Miraca Genetics Laboratories (United States).

PCCA, PCCB
Specificity
100 %
Genes
100 %

We have 84 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Genetic Syndrome Finder

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