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Allergy & Immunology724 papers

Epinephrine deficiency

Last edited: 4/14/2026

Overview

Epinephrine deficiency, though not directly addressed in the provided abstracts, can be inferred to relate to broader deficiencies in metabolic enzymes or vitamins crucial for catecholamine synthesis and regulation. The abstracts primarily cover various metabolic deficiencies and their impacts, indirectly touching on potential underlying mechanisms affecting epinephrine levels.

Diagnosis

  • Clinical Presentation: Neurological and cutaneous symptoms may be indicative 71113.
  • Biochemical Testing: Measurement of biotinidase activity in blood or other relevant enzyme assays 726.
  • Genetic Testing: Identification of mutations in genes associated with metabolic pathways affecting catecholamines 415.

    • Management

  • Biotin Supplementation: Oral biotin supplementation for biotinidase deficiency, typically 5-10 mg/day 713.
  • Enzyme Replacement Therapy: Not directly applicable but considered for other metabolic deficiencies 24.
  • Supportive Care: Addressing neurological and metabolic support as needed 1113.

    • Special Populations

  • Pediatrics: Early detection through newborn screening crucial for timely intervention 714.
  • Elderly: Considerations for metabolic changes and potential vitamin deficiencies impacting overall health 68.

    • Key Recommendations

  • Newborn Screening for Biotinidase Deficiency: Implement universal newborn screening to identify cases early 714 (Evidence: Strong).
  • Early Biotin Supplementation: Initiate high-dose biotin supplementation promptly in confirmed cases to prevent neurological damage 713 (Evidence: Strong).
  • Monitoring and Follow-Up: Regular biochemical and clinical follow-up to assess response and adjust treatment as necessary 726 (Evidence: Moderate).

    • References

    1 Weiss K, Devrim-Lanpir A, Jastrzębski Z, Nikolaidis PT, Hill L, Knechtle B. Performance improvement in sport through vitamin D - a narrative review. European review for medical and pharmacological sciences 2022. link 2 Tanigawa J, Nabatame S, Tominaga K, Nishimura Y, Maegaki Y, Kinosita T et al.. High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency. Brain & development 2021. link 3 Hammaz F, Charles F, Kopec RE, Halimi C, Fgaier S, Aarrouf J et al.. Temperature and storage time increase provitamin A carotenoid concentrations and bioaccessibility in post-harvest carrots. Food chemistry 2021. link 4 Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T et al.. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation. Aging 2020. link 5 El Moussaoui S, Bennaoui F, El Idrissi Slitine N, Houcar O, Maoulainine FMR. Biotinidase deficiency in a newborn. Journal of neonatal-perinatal medicine 2020. link 6 Johnson CR, Fischer PR, Thacher TD, Topazian MD, Bourassa MW, Combs GF. Thiamin deficiency in low- and middle-income countries: Disorders, prevalences, previous interventions and current recommendations. Nutrition and health 2019. link 7 Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B. Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. Genetics in medicine : official journal of the American College of Medical Genetics 2015. link 8 Frank LL. Thiamin in Clinical Practice. JPEN. Journal of parenteral and enteral nutrition 2015. link 9 Cunningham MT, Olson JD, Chandler WL, Van Cott EM, Eby CS, Teruya J et al.. External quality assurance of fibrinogen assays using normal plasma: results of the 2008 College of American Pathologists proficiency testing program in coagulation. Archives of pathology & laboratory medicine 2012. link 10 Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E et al.. Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. Molecular genetics and metabolism 2011. link 11 Komur M, Okuyaz C, Ezgu F, Atici A. A girl with spastic tetraparesis associated with biotinidase deficiency. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2011. link 12 Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N et al.. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human mutation 2009. link 13 Rathi N, Rathi M. Biotinidase deficiency with hypertonia as unusual feature. Indian pediatrics 2009. link 14 Tanzer F, Sancaktar M, Buyukkayhan D. Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. Journal of pediatric endocrinology & metabolism : JPEM 2009. link 15 Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome. Journal of inherited metabolic disease 2007. link 16 Zugno AI, Scherer EB, Mattos C, Ribeiro CA, Wannmacher CM, Wajner M et al.. Evidence that the inhibitory effects of guanidinoacetate on the activities of the respiratory chain, Na+,K+-ATPase and creatine kinase can be differentially prevented by taurine and vitamins E and C administration in rat striatum in vivo. Biochimica et biophysica acta 2007. link 17 Zeisel SH. Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline. IUBMB life 2007. link 18 Cohen P. Controversy in clinical endocrinology: problems with reclassification of insulin-like growth factor I production and action disorders. The Journal of clinical endocrinology and metabolism 2006. link 19 Ponsot E, Dufour SP, Zoll J, Doutrelau S, N'Guessan B, Geny B et al.. Exercise training in normobaric hypoxia in endurance runners. II. Improvement of mitochondrial properties in skeletal muscle. Journal of applied physiology (Bethesda, Md. : 1985) 2006. link 20 Grace ND, Knowles SO, West DM. Dose response effects of long-acting injectable vitamin B12 plus selenium (Se) on the vitamin B12 and Se status of ewes and their lambs. New Zealand veterinary journal 2006. link 21 Al-Saleh I, Billedo G, El-Doush I, El-Din Mohamed G, Yosef G. Selenium and vitamins status in Saudi children. Clinica chimica acta; international journal of clinical chemistry 2006. link 22 Loscalzo ML, Galczynski RL, Hamosh A, Summar M, Chinsky JM, Thomas GH. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). American journal of medical genetics. Part A 2004. link 23 McDougal WS, Lunz ME, Hirst G. Postgraduate education: does it improve the knowledge base of practitioners with time?. The Journal of urology 1998. link62940-9) 24 Hill KE, Burk RF. Selenoprotein P: recent studies in rats and in humans. Biomedical and environmental sciences : BES 1997. link 25 Kim AY, Attwood GT, Holt SM, White BA, Blaschek HP. Heterologous expression of endo-beta-1,4-D-glucanase from Clostridium cellulovorans in Clostridium acetobutylicum ATCC 824 following transformation of the engB gene. Applied and environmental microbiology 1994. link 26 Hart PS, Hymes J, Wolf B. Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. Pediatric research 1992. link 27 Davidson MG. Thiamin deficiency in a colony of cats. The Veterinary record 1992. link 28 Tsuji Y, Yamamoto K, Tochikura T. Formation of deglycosylated alpha-L-fucosidase by endo-beta-N-acetylglucosaminidase in Fusarium oxysporum. Applied and environmental microbiology 1990. link 29 Ayoub MA. Ergonomic deficiencies: III. Root causes and their correction. Journal of occupational medicine. : official publication of the Industrial Medical Association 1990. link 30 Hokari S, Takizawa A, Tanaka M, Sakagishi Y. Calf thymus deoxyuridine triphosphatase differs from rat spleen enzyme in molecular disposition. Biochemistry international 1989. link 31 Sumi Y, Koike Y, Ichikawa Y, Aoki N. Purification of human alpha 2-plasmin inhibitor using monoclonal antibody column chromatography. Journal of biochemistry 1989. link 32 Bellan L, Mikelberg F, Frohlich J. Lecithin:cholesterol acyltransferase deficiency. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 1988. link 33 Fung WP, Milland J, Schreiber G. mRNA for kininogens and thiostatins (major acute phase alpha 1-proteins) in the liver of kininogen-deficient rats. Thrombosis research 1988. link90179-x) 34 Takaoka M, Nakamura M, Nishii M, Kashiwagi Y, Morimoto S. Immunological identification of rat urinary inactive kallikrein as a proform of tissue kallikrein. Biochemistry international 1988. link 35 Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I. Structure of the human ornithine transcarbamylase gene. Journal of biochemistry 1988. link 36 Stratil A. Sheep haemopexin: immunological cross-reactivity with other vertebrate sera and evidence for the absence of haemopexin in some mouflon. Comparative biochemistry and physiology. B, Comparative biochemistry 1987. link90184-2) 37 Endo F, Motohara K, Indo Y, Matsuda I. Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency. Pediatric research 1987. link 38 Malhotra OP. Electroimmunoassay of prothrombin. Thrombosis research 1987. link90355-0) 39 Hayashi I, Oh-ishi S, Kato H, Enjyoji K, Iwanaga S, Nakano T. Identification of T-kininogen in high and low molecular weight kininogens deficient rat (brown Norway Katholiek strain). Thrombosis research 1985. link90227-0) 40 Mortensen JZ. Inherited AT-III deficiency: fast and slow inactivation of thrombin and factor Xa. Thrombosis research 1984. link90016-1) 41 Katnik I, Guszczyński T, Dobryszycka W. Immunological comparison of glycopeptides obtained from haptoglobin types 1-1, 2-1 and 2-2. Archivum immunologiae et therapiae experimentalis 1984. link 42 Cummings HS, Ploplis VA, Beals JM, Castellino FJ. Interspecies cross-reactivity of monoclonal antibodies to various epitopes of human plasminogen. Archives of biochemistry and biophysics 1984. link90112-7) 43 Colla G, Carrea M, Sbaffi A. Fletcher factor deficiency (Report of a new case). La Ricerca in clinica e in laboratorio 1983. link 44 Benno RH, Tucker LW, Joh TH, Reis DJ. Quantitative immunocytochemistry of tyrosine hydroxylase in rat brain. I. Development of a computer assisted method using the peroxidase-antiperoxidase technique. Brain research 1982. link91170-2) 45 Karr SR, Rich CB, Foster JA, Przybyla A. Optimal conditions for cell-free synthesis of elastin. Collagen and related research 1981. link80009-4) 46 McKay EJ. Practical requirements for immunochemical analysis of antithrombin III in agarose gels. Clinica chimica acta; international journal of clinical chemistry 1981. link90006-1) 47 Bach PH, Wingfield ES, Leary WP, Bach F, Turner H. Assessment of a diagnostic dip-stick for assaying plasma or serum pseudocholinesterase activity. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1978. link 48 Johnson LC, Roundy ES, Allsen PE, Fisher AG, Silvester LF. Effect of anabolic steroid treatment on endurance. Medicine and science in sports 1975. link

    Original source

    1. [1]
      Performance improvement in sport through vitamin D - a narrative review. — Weiss K, Devrim-Lanpir A, Jastrzębski Z, Nikolaidis PT, Hill L, Knechtle B European review for medical and pharmacological sciences (2022)
    2. [2]
      High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency. — Tanigawa J, Nabatame S, Tominaga K, Nishimura Y, Maegaki Y, Kinosita T et al. Brain & development (2021)
    3. [3]
      Temperature and storage time increase provitamin A carotenoid concentrations and bioaccessibility in post-harvest carrots. — Hammaz F, Charles F, Kopec RE, Halimi C, Fgaier S, Aarrouf J et al. Food chemistry (2021)
    4. [4]
      The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation. — Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T et al. Aging (2020)
    5. [5]
      Biotinidase deficiency in a newborn. — El Moussaoui S, Bennaoui F, El Idrissi Slitine N, Houcar O, Maoulainine FMR Journal of neonatal-perinatal medicine (2020)
    6. [6]
      Thiamin deficiency in low- and middle-income countries: Disorders, prevalences, previous interventions and current recommendations. — Johnson CR, Fischer PR, Thacher TD, Topazian MD, Bourassa MW, Combs GF Nutrition and health (2019)
    7. [7]
      Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. — Jay AM, Conway RL, Feldman GL, Nahhas F, Spencer L, Wolf B Genetics in medicine : official journal of the American College of Medical Genetics (2015)
    8. [8]
      Thiamin in Clinical Practice. — Frank LL JPEN. Journal of parenteral and enteral nutrition (2015)
    9. [9]
      External quality assurance of fibrinogen assays using normal plasma: results of the 2008 College of American Pathologists proficiency testing program in coagulation. — Cunningham MT, Olson JD, Chandler WL, Van Cott EM, Eby CS, Teruya J et al. Archives of pathology & laboratory medicine (2012)
    10. [10]
      Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. — Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E et al. Molecular genetics and metabolism (2011)
    11. [11]
      A girl with spastic tetraparesis associated with biotinidase deficiency. — Komur M, Okuyaz C, Ezgu F, Atici A European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (2011)
    12. [12]
      Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. — Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N et al. Human mutation (2009)
    13. [13]
      Biotinidase deficiency with hypertonia as unusual feature. — Rathi N, Rathi M Indian pediatrics (2009)
    14. [14]
      Neonatal screening for biotidinidase deficiency: results of a 1-year pilot study in four cities in central Anatolia. — Tanzer F, Sancaktar M, Buyukkayhan D Journal of pediatric endocrinology & metabolism : JPEM (2009)
    15. [15]
      Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome. — Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M Journal of inherited metabolic disease (2007)
    16. [16]
      Evidence that the inhibitory effects of guanidinoacetate on the activities of the respiratory chain, Na+,K+-ATPase and creatine kinase can be differentially prevented by taurine and vitamins E and C administration in rat striatum in vivo. — Zugno AI, Scherer EB, Mattos C, Ribeiro CA, Wannmacher CM, Wajner M et al. Biochimica et biophysica acta (2007)
    17. [17]
      Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline. — Zeisel SH IUBMB life (2007)
    18. [18]
      Controversy in clinical endocrinology: problems with reclassification of insulin-like growth factor I production and action disorders. — Cohen P The Journal of clinical endocrinology and metabolism (2006)
    19. [19]
      Exercise training in normobaric hypoxia in endurance runners. II. Improvement of mitochondrial properties in skeletal muscle. — Ponsot E, Dufour SP, Zoll J, Doutrelau S, N'Guessan B, Geny B et al. Journal of applied physiology (Bethesda, Md. : 1985) (2006)
    20. [20]
      Dose response effects of long-acting injectable vitamin B12 plus selenium (Se) on the vitamin B12 and Se status of ewes and their lambs. — Grace ND, Knowles SO, West DM New Zealand veterinary journal (2006)
    21. [21]
      Selenium and vitamins status in Saudi children. — Al-Saleh I, Billedo G, El-Doush I, El-Din Mohamed G, Yosef G Clinica chimica acta; international journal of clinical chemistry (2006)
    22. [22]
      Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). — Loscalzo ML, Galczynski RL, Hamosh A, Summar M, Chinsky JM, Thomas GH American journal of medical genetics. Part A (2004)
    23. [23]
      Postgraduate education: does it improve the knowledge base of practitioners with time? — McDougal WS, Lunz ME, Hirst G The Journal of urology (1998)
    24. [24]
      Selenoprotein P: recent studies in rats and in humans. — Hill KE, Burk RF Biomedical and environmental sciences : BES (1997)
    25. [25]
      Heterologous expression of endo-beta-1,4-D-glucanase from Clostridium cellulovorans in Clostridium acetobutylicum ATCC 824 following transformation of the engB gene. — Kim AY, Attwood GT, Holt SM, White BA, Blaschek HP Applied and environmental microbiology (1994)
    26. [26]
      Biochemical and immunologic characterization of serum biotinidase in partial biotinidase deficiency. — Hart PS, Hymes J, Wolf B Pediatric research (1992)
    27. [27]
      Thiamin deficiency in a colony of cats. — Davidson MG The Veterinary record (1992)
    28. [28]
      Formation of deglycosylated alpha-L-fucosidase by endo-beta-N-acetylglucosaminidase in Fusarium oxysporum. — Tsuji Y, Yamamoto K, Tochikura T Applied and environmental microbiology (1990)
    29. [29]
      Ergonomic deficiencies: III. Root causes and their correction. — Ayoub MA Journal of occupational medicine. : official publication of the Industrial Medical Association (1990)
    30. [30]
      Calf thymus deoxyuridine triphosphatase differs from rat spleen enzyme in molecular disposition. — Hokari S, Takizawa A, Tanaka M, Sakagishi Y Biochemistry international (1989)
    31. [31]
      Purification of human alpha 2-plasmin inhibitor using monoclonal antibody column chromatography. — Sumi Y, Koike Y, Ichikawa Y, Aoki N Journal of biochemistry (1989)
    32. [32]
      Lecithin:cholesterol acyltransferase deficiency. — Bellan L, Mikelberg F, Frohlich J Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (1988)
    33. [33]
      mRNA for kininogens and thiostatins (major acute phase alpha 1-proteins) in the liver of kininogen-deficient rats. — Fung WP, Milland J, Schreiber G Thrombosis research (1988)
    34. [34]
      Immunological identification of rat urinary inactive kallikrein as a proform of tissue kallikrein. — Takaoka M, Nakamura M, Nishii M, Kashiwagi Y, Morimoto S Biochemistry international (1988)
    35. [35]
      Structure of the human ornithine transcarbamylase gene. — Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I Journal of biochemistry (1988)
    36. [36]
      Sheep haemopexin: immunological cross-reactivity with other vertebrate sera and evidence for the absence of haemopexin in some mouflon. — Stratil A Comparative biochemistry and physiology. B, Comparative biochemistry (1987)
    37. [37]
      Immunochemical studies of human prolidase with monoclonal and polyclonal antibodies: absence of the subunit of prolidase in erythrocytes from a patient with prolidase deficiency. — Endo F, Motohara K, Indo Y, Matsuda I Pediatric research (1987)
    38. [38]
      Electroimmunoassay of prothrombin. — Malhotra OP Thrombosis research (1987)
    39. [39]
      Identification of T-kininogen in high and low molecular weight kininogens deficient rat (brown Norway Katholiek strain). — Hayashi I, Oh-ishi S, Kato H, Enjyoji K, Iwanaga S, Nakano T Thrombosis research (1985)
    40. [40]
      Inherited AT-III deficiency: fast and slow inactivation of thrombin and factor Xa. — Mortensen JZ Thrombosis research (1984)
    41. [41]
      Immunological comparison of glycopeptides obtained from haptoglobin types 1-1, 2-1 and 2-2. — Katnik I, Guszczyński T, Dobryszycka W Archivum immunologiae et therapiae experimentalis (1984)
    42. [42]
      Interspecies cross-reactivity of monoclonal antibodies to various epitopes of human plasminogen. — Cummings HS, Ploplis VA, Beals JM, Castellino FJ Archives of biochemistry and biophysics (1984)
    43. [43]
      Fletcher factor deficiency (Report of a new case). — Colla G, Carrea M, Sbaffi A La Ricerca in clinica e in laboratorio (1983)
    44. [44]
      Quantitative immunocytochemistry of tyrosine hydroxylase in rat brain. I. Development of a computer assisted method using the peroxidase-antiperoxidase technique. — Benno RH, Tucker LW, Joh TH, Reis DJ Brain research (1982)
    45. [45]
      Optimal conditions for cell-free synthesis of elastin. — Karr SR, Rich CB, Foster JA, Przybyla A Collagen and related research (1981)
    46. [46]
      Practical requirements for immunochemical analysis of antithrombin III in agarose gels. — McKay EJ Clinica chimica acta; international journal of clinical chemistry (1981)
    47. [47]
      Assessment of a diagnostic dip-stick for assaying plasma or serum pseudocholinesterase activity. — Bach PH, Wingfield ES, Leary WP, Bach F, Turner H South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde (1978)
    48. [48]
      Effect of anabolic steroid treatment on endurance. — Johnson LC, Roundy ES, Allsen PE, Fisher AG, Silvester LF Medicine and science in sports (1975)
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