The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with β-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia

1982 ◽  
Vol 9 (1) ◽  
pp. 1-5 ◽  
Author(s):  
M. Duran ◽  
L. Bruinvis ◽  
D. Ketting ◽  
J. P. Kamerling ◽  
S. K. Wadman ◽  
...  
Keyword(s):  
Propionic Acidaemia ◽  
Methylmalonic 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

Methylmalonic acidaemia: a rare metabolic disorder in pregnancy

2004 ◽  
Vol 24 (8) ◽  
pp. 927-928 ◽  
Author(s):  
OA Adeyemi ◽  
T Girish ◽  
S Mukhopadhyay ◽  
SA Olczak ◽  
Z Ahmed
Keyword(s):  
Metabolic Disorder ◽  
Methylmalonic Acidaemia ◽  
Rare Metabolic Disorder ◽  
In Pregnancy

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
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