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pipecolic acid and Metabolism, Inborn Errors

pipecolic acid has been researched along with Metabolism, Inborn Errors in 12 studies

pipecolic acid: RN given refers to cpd without isomeric designation
pipecolic acid : A piperidinemonocarboxylic acid in which the carboxy group is located at position C-2.
pipecolate : A piperidinecarboxylate that is the conjugate base of pipecolic acid.

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
"Elevated concentrations of pipecolic acid have been reported in plasma and CSF of patients with pyridoxine-dependent epilepsy, but its molecular background is unclear."3.73Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats. ( Hoeger, H; Jakobs, C; Leschnik, M; Muehl, A; Plecko, B; Stoeckler-Ipsiroglu, S; Stromberger, C; Struys, E, 2005)
"As Zellweger syndrome is usually fatal in early life, prenatal diagnosis of the disease is important."2.37Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment. ( Heymans, HS; Schrakamp, G; Schram, AW; Schutgens, RB; Tager, JM; van den Bosch, H; Wanders, RJ, 1987)

Research

Studies (12)

TimeframeStudies, this research(%)All Research%
pre-19905 (41.67)18.7374
1990's4 (33.33)18.2507
2000's2 (16.67)29.6817
2010's0 (0.00)24.3611
2020's1 (8.33)2.80

Authors

AuthorsStudies
Mathis, D1
Beese, K1
Rüegg, C1
Plecko, B2
Hersberger, M1
Baas, JC1
van de Laar, R1
Dorland, L1
Duran, M1
Berger, R1
Poll-The, BT2
de Koning, TJ1
Hoeger, H1
Jakobs, C2
Struys, E1
Stromberger, C1
Leschnik, M1
Muehl, A1
Stoeckler-Ipsiroglu, S1
Govaerts, L1
Monnens, L2
Tegelaers, W1
Trijbels, F1
van Raay-Selten, A1
Espeel, M1
Mandel, H1
Poggi, F1
Smeitink, JA1
Wanders, RJ3
Kerckaert, I1
Schutgens, RB3
Saudubray, JM1
Roels, F1
Armstrong, DW1
Zukowski, J1
Ercal, N1
Gasper, M1
Zee, T1
Stellaard, F1
Caruso, U1
Romano, C1
Heymans, H1
Trijbels, JM1
Monnens, LA1
Melis, G1
van den Broekvan Essen, M1
Bruckwilder, M1
Heymans, HS2
Schram, AW1
Tager, JM1
Schrakamp, G1
van den Bosch, H1
Barth, PG1
Moser, AE1
Moser, HW1
Bleeker-Wagemakers, EM1
Jansonius-Schultheiss, K1
Derix, M1
Nelck, GF1

Reviews

2 reviews available for pipecolic acid and Metabolism, Inborn Errors

ArticleYear
Peroxisomal disorders: clinical characterization.
    Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1

    Topics: Adrenoleukodystrophy; Brain Diseases; Chondrodysplasia Punctata; Enzymes; Humans; Hyperoxaluria, Pri

1987
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.
    Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1

    Topics: Bile Acids and Salts; Brain Diseases; Catalase; Enzymes; Fatty Acids; Humans; Kidney Diseases; Liver

1987

Other Studies

10 other studies available for pipecolic acid and Metabolism, Inborn Errors

ArticleYear
LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:5

    Topics: Aldehyde Dehydrogenase; Biomarkers; Chromatography, Liquid; Diagnosis, Differential; Epilepsy; Human

2020
Plasma pipecolic acid is frequently elevated in non-peroxisomal disease.
    Journal of inherited metabolic disease, 2002, Volume: 25, Issue:8

    Topics: Biomarkers; False Positive Reactions; Humans; Metabolism, Inborn Errors; Peroxisomal Disorders; Pipe

2002
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:5

    Topics: Animal Nutritional Physiological Phenomena; Animals; Brain; Disease Models, Animal; Epilepsy; Female

2005
Cerebro-hepato-renal syndrome of Zellweger: clinical symptoms and relevant laboratory findings in 16 patients.
    European journal of pediatrics, 1982, Volume: 139, Issue:2

    Topics: Bile Acids and Salts; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Metabolism, I

1982
Peroxisome mosaicism in the livers of peroxisomal deficiency patients.
    Hepatology (Baltimore, Md.), 1995, Volume: 22, Issue:2

    Topics: Bile Acids and Salts; Catalase; Child; Child, Preschool; Fatty Acids; Fibroblasts; Humans; Immunoblo

1995
Stereochemistry of pipecolic acid found in the urine and plasma of subjects with peroxisomal deficiencies.
    Journal of pharmaceutical and biomedical analysis, 1993, Volume: 11, Issue:10

    Topics: Adult; Aged; Aged, 80 and over; Chromatography; Humans; Infant; Metabolism, Inborn Errors; Microbodi

1993
Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard.
    Journal of chromatography, 1992, Feb-14, Volume: 574, Issue:2

    Topics: Body Fluids; Chromatography, Gas; Electrons; Humans; Metabolism, Inborn Errors; Microbodies; Pipecol

1992
[Diagnostic approach to peroxisomal diseases].
    Minerva pediatrica, 1991, Volume: 43, Issue:3

    Topics: Bile Acids and Salts; Diagnosis, Differential; Fatty Acids; Humans; Infant, Newborn; Metabolism, Inb

1991
Localization of pipecolic acid metabolism in rat liver peroxisomes: probable explanation for hyperpipecolataemia in Zellweger syndrome.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:2

    Topics: Animals; Brain Diseases; Humans; In Vitro Techniques; Kidney Diseases; Liver; Liver Diseases; Metabo

1987
A sibship with a mild variant of Zellweger syndrome.
    Journal of inherited metabolic disease, 1987, Volume: 10, Issue:3

    Topics: Acyltransferases; Bile Acids and Salts; Brain Diseases; Child; Child, Preschool; Fatty Acids; Female

1987