scholarly journals Propionic acidaemia

2018 ◽  
Author(s):  
Rohit Sharma ◽  
Hamish Smith
Keyword(s):  
Propionic Acidaemia

scholarly journals Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision

2021 ◽  
Author(s):  
Patrick Forny ◽  
Friederike Hörster ◽  
Diana Ballhausen ◽  
Anupam Chakrapani ◽  
Kimberly A. Chapman ◽  
...  
Keyword(s):  
Propionic Acidaemia ◽  
Methylmalonic Acidaemia ◽  
Diagnosis And Management

Propionic acidaemia: a neuropathological study of two patients presenting in infancy

1991 ◽  
Vol 17 (2) ◽  
pp. 133-138 ◽  
Author(s):  
B. N. HARDING ◽  
J. V. LEONARD ◽  
M. ERDOHAZI
Keyword(s):  
Propionic Acidaemia

Inhibition of mitogen-activated proliferation of human peripheral lymphocytes in vitro by propionic acid

1999 ◽  
Vol 96 (1) ◽  
pp. 99-103 ◽  
Author(s):  
Moacir WAJNER ◽  
Kátia D. SANTOS ◽  
Jeanine L. SCHLOTTFELDT ◽  
Maureen P. ROCHA ◽  
Clóvis M. D. WANNMACHER
Keyword(s):  
Propionic Acid ◽  
Concanavalin A ◽  
Methylmalonic Acid ◽  
Cellular Growth ◽  
Propionic Acidaemia ◽  
Pokeweed Mitogen ◽  
Recurrent Infections ◽  
Peripheral Lymphocytes ◽  
Human Peripheral Lymphocytes

Recurrent infections are common features in patients affected by propionic acidaemia (McKusick 232000) and methylmalonic acidaemia (McKusick 251000). Since these disorders are biochemically characterized by tissue accumulation of propionic acid and methylmalonic acid respectively, it is possible that these compounds may act as immunosuppressants. We therefore investigated the effect of propionate and methylmalonate on cellular growth of human peripheral lymphocytes stimulated in vitro by phytohaemagglutinin, concanavalin A and pokeweed mitogen, a recognized test of cellular immunocompetence. Lymphocytes were cultured in flat-bottomed 96-well microplates at 37 ;°C for 96 ;h (phytohaemagglutinin and concanavalin A) or 144 ;h (pokeweed mitogen) in the presence of one mitogen at different concentrations and of one acid added at doses of 1.0, 2.5 or 5.0 ;mM. Cell blastogenesis was measured by the incorporation of tritiated thymidine into cellular DNA and compared with that of identical cultures with no acid added (controls). A consistent and progressive inhibitory effect of propionic acid with increasing concentrations in culture was identified with all mitogens and was more pronounced with pokeweed mitogen. Lymphocyte blastogenesis was not altered in the presence of methylmalonic acid. The effect of propionate was observed only when the drug was added at the beginning (phytohaemagglutinin-activated) or until 24 ;h (concanavalin A- and pokeweed mitogen-activated) of culture. The viability of lymphocytes after treatment with the drug, as assessed by the Trypan Blue exclusion test, revealed no change when compared with the same untreated lymphocytes, indicating no lymphocytotoxic activity. In conclusion, propionic acid, which accumulates in tissues of patients with propionic acidaemia, causes ‘in vitro’ immunosuppression, which may be related to the recurrent infections characteristic of these patients.

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’

2008 ◽  
Vol 31 (3) ◽  
pp. 395-398 ◽  
Author(s):  
S. Scholl-Bürgi ◽  
S. H. Korman ◽  
D. A. Applegarth ◽  
D. Karall ◽  
Y. Lillquist ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Propionic Acidaemia

The effect of intravenous l-carnitine on propionic acid excretion in acute propionic acidaemia

1984 ◽  
Vol 143 (1) ◽  
pp. 61-63 ◽  
Author(s):  
H. B�hles ◽  
W. Lehnert
Keyword(s):  
Propionic Acid ◽  
Propionic Acidaemia ◽  
Acid Excretion

scholarly journals Unusual presentation of propionic acidaemia as isolated cardiomyopathy

2009 ◽  
Vol 32 (S1) ◽  
pp. 97-101 ◽  
Author(s):  
T. M. Lee ◽  
L. J. Addonizio ◽  
B. A. Barshop ◽  
W. K. Chung
Keyword(s):  
Unusual Presentation ◽  
Propionic Acidaemia

Three independent mutations in the same exon of thePCCB gene: Differences between Caucasian and Japanese propionic acidaemia

1993 ◽  
Vol 16 (2) ◽  
pp. 353-360 ◽  
Author(s):  
T. Tahara ◽  
J. P. Kraus ◽  
T. Ohura ◽  
L. E. Rosenberg ◽  
W. A. Fenton
Keyword(s):  
Propionic Acidaemia

BREATH GAS ANALYSIS IN PATIENTS SUFFERING FROM PROPIONIC ACIDAEMIA

2005 ◽  
Author(s):  
U. JANOVSKY ◽  
S. SCHOLL-BÜRGI ◽  
D. KARALL ◽  
J. BEAUCHAMP ◽  
A. HANSEL ◽  
...  
Keyword(s):  
Gas Analysis ◽  
Propionic Acidaemia ◽  
Breath Gas Analysis

Propionic acidaemia: clinical, biochemical and therapeutic aspects

1994 ◽  
Vol 153 (S1) ◽  
pp. S68-S80 ◽  
Author(s):  
W. Lehnert ◽  
W. Sperl ◽  
T. Suormala ◽  
E. R. Baumgartner
Keyword(s):  
Propionic Acidaemia

scholarly journals Clinical Spectrum of Propionic Acidaemia

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Muhammad Rafique
Keyword(s):  
Clinical Features ◽  
Respiratory Diseases ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Cerebral Atrophy ◽  
Propionic Acidaemia ◽  
Ratio Analysis ◽  
Laboratory Parameters ◽  
Physical Findings

Objectives. To evaluate the clinical features, physical findings, diagnosis, and laboratory parameters of the patients with propionic acidaemia (PA).Methods. The records of diagnosed cases of propionic acidaemia were reviewed, retrospectively.Results. Twenty-six patients with PA had 133 admissions. The majority (85%) of the patients exhibited clinical manifestations in the 1st week of life. Regarding clinical features, lethargy, fever, poor feeding, vomiting, dehydration, muscular hypotonia, respiratory symptoms, encephalopathy, disturbance of tone and reflexes, and malnutrition were observed in 51–92% admissions. Metabolic crises, respiratory diseases, hyperammonaemia, metabolic acidosis, hypoalbuminaemia, and hypocalcaemia were observed in 30–96% admissions. Pancytopenia, ketonuria, hypoproteinemia, hypoglycaemia, and mildly disturbed liver enzymes were found in 12–41% admissions. Generalised brain oedema was detected in 17% and cerebral atrophy in 25% admissions. Gender-wise odd ratio analysis showed value of 1.9 for lethargy, 1.99 for respiratory diseases, 0.55 for anaemia, and 1.82 for hypocalcaemia.Conclusion. Propionic acidaemia usually presents with wide spectrum of clinical features and disturbances of laboratory parameters in early neonatal age. It is associated with significant complications which deteriorate the patients’ quality of life. Perhaps with early diagnosis of the disease and in time intervention, these may be preventable.

Sign in / Sign up

Export Citation Format

Share Document