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propionic acid and BCKD Deficiency

propionic acid has been researched along with BCKD Deficiency in 5 studies

propionic acid : A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.

Research Excerpts

ExcerptRelevanceReference
"We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies."7.68Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. ( Barness, LA; Davidson, SR; Harding, CO; Van Calcar, SC; Wolff, JA, 1992)
" Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years."3.73Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005)
"We report on 2 women with organic acidemias, one with classical maple syrup urine disease and another with mild propionic acidemia in which protein restricted diets and carnitine supplementation were successfully employed to manage pregnancies."3.68Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. ( Barness, LA; Davidson, SR; Harding, CO; Van Calcar, SC; Wolff, JA, 1992)
"The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported."3.67Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). ( Guibaud, P; Rousson, R, 1984)
"We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients)."3.67The management and long term outcome of organic acidaemias. ( Bartlett, K; Daish, P; Leonard, JV; Naughten, ER, 1984)
"Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases."3.67Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. ( Charpentier, C; Coudé, FX; Depondt, E; Frézal, J; Mitchell, G; Munnich, A; Ogier, H; Rey, F; Rey, J; Saudubray, JM, 1984)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19903 (60.00)18.7374
1990's1 (20.00)18.2507
2000's1 (20.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Huner, G1
Baykal, T1
Demir, F1
Demirkol, M1
Rousson, R1
Guibaud, P1
Leonard, JV1
Daish, P1
Naughten, ER1
Bartlett, K1
Saudubray, JM1
Ogier, H1
Charpentier, C1
Depondt, E1
Coudé, FX1
Munnich, A1
Mitchell, G1
Rey, F1
Rey, J1
Frézal, J1
Van Calcar, SC1
Harding, CO1
Davidson, SR1
Barness, LA1
Wolff, JA1

Other Studies

5 other studies available for propionic acid and BCKD Deficiency

ArticleYear
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate

2005
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Acids; Adolescent; Child; Child, Preschool; France; Hemiterpenes; Humans; Infant; Infant, Newborn; M

1984
The management and long term outcome of organic acidaemias.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Acids; Amidohydrolases; Biotinidase; Carbon-Carbon Ligases; Humans; Infant; Infant, Newborn; Ligases

1984
Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
    Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 1

    Topics: Acids; Amino Acid Metabolism, Inborn Errors; Diuresis; Exchange Transfusion, Whole Blood; Hemiterpen

1984
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
    American journal of medical genetics, 1992, Nov-15, Volume: 44, Issue:5

    Topics: Adult; Amino Acids; Carbon-Carbon Ligases; Carnitine; Citrates; Citric Acid; Female; Fetal Growth Re

1992