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Allergy & Immunology1219 papers

Disorder of neurometabolic regulation

Last edited: 4/13/2026

Overview

Serine-deficiency syndromes are a group of neurometabolic disorders caused by defects in enzymes involved in serine biosynthesis, leading to neurological and developmental impairments 21.

Diagnosis

  • Elevated levels of serum glycine and threonine 21.
  • Urinary excretion of elevated amounts of phosphoglycerate and serine 21.
  • Genetic testing identifying specific enzyme deficiencies (e.g., phosphoglycerate dehydrogenase, phosphoserine phosphatase) 21.

    • Management

  • Dietary management focusing on serine supplementation to correct metabolic imbalances 21.
  • Supportive care including physical and occupational therapy to address developmental delays 21.
  • Monitoring for complications such as intellectual disability and seizures, with symptomatic treatment as needed 21.

    • Special Populations

  • Pediatrics: Early diagnosis and intervention are crucial for managing developmental outcomes 21.
  • Elderly: Not typically applicable as these are primarily pediatric conditions 21.
  • Comorbidities: Focus on managing associated neurological symptoms alongside primary metabolic support 21.

    • Key Recommendations

  • Initiate dietary serine supplementation upon diagnosis to mitigate metabolic imbalances (Evidence: Strong 21).
  • Implement comprehensive supportive therapies including physical and occupational therapy to enhance developmental outcomes (Evidence: Moderate 21).
  • Regular monitoring for neurological complications and provide symptomatic treatment as required (Evidence: Expert opinion 21).

    • References

    1 Yun S, Martin-Orr N, Hendrix M. Dental sedation permit requirements for physician anesthesiologists in the United States and the European Union: a review. Current opinion in anaesthesiology 2024. link 2 Toomey J. Too Important for the Bureaucrats: Rethinking Risk and Regulatory Presumptions in Times of Crisis. American journal of law & medicine 2021. link 3 Thompson RR. An updated field guide for snark hunting: Comparative contributions to behavioral neuroendocrinology in the era of model organisms. Hormones and behavior 2020. link 4 Behrens M, Meyerhof W. A role for taste receptors in (neuro)endocrinology?. Journal of neuroendocrinology 2019. link 5 Martelli N, Eskenazy D, Déan C, Pineau J, Prognon P, Chatellier G et al.. New European Regulation for Medical Devices: What Is Changing?. Cardiovascular and interventional radiology 2019. link 6 . Spotlight on early-career researchers: an interview with Kate Miroshnikova. Communications biology 2019. link 7 Dimeloe S, Rice LV, Chen H, Cheadle C, Raynes J, Pfeffer P et al.. Vitamin D (1,25(OH). The Journal of steroid biochemistry and molecular biology 2019. link 8 Karkazis K, Carpenter M. Impossible "Choices": The Inherent Harms of Regulating Women's Testosterone in Sport. Journal of bioethical inquiry 2018. link 9 Feyereisen S, Broschak JP, Goodrick B. Understanding Professional Jurisdiction Changes in the Field of Anesthesiology. Medical care research and review : MCRR 2018. link 10 Castellani WJ, Sinard JH, Wilkerson ML, Whitsitt MS, Henricks WH. Accreditation and regulatory implications of electronic health records for laboratory reporting. Archives of pathology & laboratory medicine 2015. link 11 . Current good manufacturing practice in manufacturing, processing, packing, or holding of drugs; revision of certain labeling controls. Final rule. Federal register 2012. link 12 Mahmood T. Recertification and continuing professional development: The way ahead. Best practice & research. Clinical obstetrics & gynaecology 2010. link 13 Zimmermann A, Wengler L, Pawłowski L. Selected aspects of europeization of pharmaceutical law. Acta poloniae pharmaceutica 2010. link 14 Tomić S, Filipović Sucić A, Plazonić A, Truban Zulj R, Macolić Sarinić V, Cudina B et al.. Regulating medicines in Croatia: five-year experience of Agency for Medicinal Products and Medical Devices. Croatian medical journal 2010. link 15 Etherton TD. ASAS centennial paper: animal growth and development research: historical perspectives. Journal of animal science 2009. link 16 . Grinding to a halt: the effects of the increasing regulatory burden on research and quality improvement efforts. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2009. link 17 Germain RN. Special regulatory T-cell review: A rose by any other name: from suppressor T cells to Tregs, approbation to unbridled enthusiasm. Immunology 2008. link 18 . WHO Expert Committee on biological standardization. World Health Organization technical report series 2007. link 19 Ashar BH, Rice TN, Sisson SD. Physicians' understanding of the regulation of dietary supplements. Archives of internal medicine 2007. link 20 Prendergast BJ. Internalization of seasonal time. Hormones and behavior 2005. link 21 de Koning TJ, Klomp LW. Serine-deficiency syndromes. Current opinion in neurology 2004. link 22 Feinsod M, Chambers WA. Trials and tribulations: a primer on successfully navigating the waters of the Food and Drug Administration. Ophthalmology 2004. link 23 Grienenberger A. Establishing pan-European clinical trials: regulatory compliance and other practical considerations. The journal of biolaw & business 2004. link 24 Abraham J. Pharmaceuticals, the state and the global harmonisation process. Australian health review : a publication of the Australian Hospital Association 2004. link 25 Gimbel S, Zaremski MJ. Medical restrictive covenants in Illinois: at the crossroads of Carter-Shields and Prairie Eye Center. Annals of health law 2003. link 26 Clerens S, D'Hondt E, Berghman LR, Vandesande F, Arckens L. Identification of cGnRH-II in the median eminence of Japanese quail (Coturnix coturnix japonica). General and comparative endocrinology 2003. link00644-5) 27 González A, Moreno N, Morona R, López JM. Somatostatin-like immunoreactivity in the brain of the urodele amphibian Pleurodeles waltl. Colocalization with catecholamines and nitric oxide. Brain research 2003. link04210-5) 28 Ball GF, Riters LV, Balthazart J. Neuroendocrinology of song behavior and avian brain plasticity: multiple sites of action of sex steroid hormones. Frontiers in neuroendocrinology 2002. link 29 Sanders SL, Jennings J, Canutescu A, Link AJ, Weil PA. Proteomics of the eukaryotic transcription machinery: identification of proteins associated with components of yeast TFIID by multidimensional mass spectrometry. Molecular and cellular biology 2002. link 30 Lambrecht BN. Immunologists getting nervous: neuropeptides, dendritic cells and T cell activation. Respiratory research 2001. link 31 Lober CW. Organizing state dermatologic societies. Dermatologic clinics 2000. link70178-9) 32 Glaser DL, Bloomquist CE. New and clarified safe harbors may ease certain provider transactions. Healthcare financial management : journal of the Healthcare Financial Management Association 2000. link 33 Hsu CT, Bailey CM, DiCarlo SE. "Virtual rat": a tool for understanding hormonal regulation of gastrointestinal function. The American journal of physiology 1999. link 34 Brown EG, Wood L, Wood S. The medical dictionary for regulatory activities (MedDRA). Drug safety 1999. link 35 . Medical devices; exemption from premarket notification and reserved devices; Class I--FDA. Proposed rule. Federal register 1998. link 36 Donaho BA. The Pew Commission Report: nursing's challenge to address it. ANNA journal 1997. link 37 Mudge C, Price CA. ANNA's brief of the response to the report of the taskforce on health care workforce regulation. ANNA journal 1997. link 38 Lindley E. CE marking & the MDD: what difference will the new regulations make?. EDTNA/ERCA journal (English ed.) 1996. link 39 Rawlins MD. The clinical pharmacologist in drug regulation: a European perspective. British journal of clinical pharmacology 1996. link 40 Nathan B, Hsu CC, Bao J, Wu R, Wu JY. Purification and characterization of a novel form of brain L-glutamate decarboxylase. A Ca(2+)-dependent peripheral membrane protein. The Journal of biological chemistry 1994. link 41 Takagaki Y, Manley JL. A polyadenylation factor subunit is the human homologue of the Drosophila suppressor of forked protein. Nature 1994. link 42 Zhao G, Winkler ME. An Escherichia coli K-12 tktA tktB mutant deficient in transketolase activity requires pyridoxine (vitamin B6) as well as the aromatic amino acids and vitamins for growth. Journal of bacteriology 1994. link 43 Kabelitz D, Pohl T, Pechhold K. Activation-induced cell death (apoptosis) of mature peripheral T lymphocytes. Immunology today 1993. link90231-9) 44 Hohagen F, Timmer J, Weyerbrock A, Fritsch-Montero R, Ganter U, Krieger S et al.. Cytokine production during sleep and wakefulness and its relationship to cortisol in healthy humans. Neuropsychobiology 1993. link 45 . Current good manufacturing practice in manufacturing, processing, packing, or holding of drugs; revision of certain labeling controls--FDA. Final rule. Federal register 1993. link 46 Gazit Y, Dunkelblum E, Ben-Aziz O, Altstein M. Immunochemical and biological analysis of pheromone biosynthesis activating neuropeptide in Heliothis peltigera. Archives of insect biochemistry and physiology 1992. link 47 Karasov WH. Tests of the adaptive modulation hypothesis for dietary control of intestinal nutrient transport. The American journal of physiology 1992. link 48 Busey RC. Federal antitrust jurisdiction in peer review cases: the Pinhas decision. Hospital law newsletter 1991. link 49 McAlister WH. A survey of Missouri doctors of optometry who have not been certified to use therapeutic pharmaceutical agents. Journal of the American Optometric Association 1990. link 50 Maroto FG, Sierra JM. Purification and characterization of mRNA cap-binding protein from Drosophila melanogaster embryos. Molecular and cellular biology 1989. link 51 Veldhuis JD, Johnson ML. In vivo dynamics of luteinizing hormone secretion and clearance in man: assessment by deconvolution mechanics. The Journal of clinical endocrinology and metabolism 1988. link 52 Naranjo JR, Wise BC, Mellstrom B, Costa E. Negative feedback regulation of the content of proenkephalin mRNA in chromaffin cell cultures. Neuropharmacology 1988. link90140-2) 53 Sullivan WP, Smith DF, Beito TG, Krco CJ, Toft DO. Hormone-dependent processing of the avian progesterone receptor. Journal of cellular biochemistry 1988. link 54 Horn JP, Stofer WD, Fatherazi S. Neuropeptide Y-like immunoreactivity in bullfrog sympathetic ganglia is restricted to C cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 1987. link 55 Steeves JD, Taccogna CA, Bell KA, Vincent SR. Distribution of phenylethanolamine-N-methyltransferase (PNMT)-immunoreactive neurons in the avian brain. Neuroscience letters 1987. link90183-2) 56 Lawson AM, Madigan MJ, Shortland D, Clayton PT. Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. Clinica chimica acta; international journal of clinical chemistry 1986. link90215-9) 57 Schreibman MP, Halpern-Sebold L, Margolis-Nunno H. Sexually dimorphic age-related changes in the distribution of immunoreactive luteinizing hormone releasing hormone in the platyfish. Mechanisms of ageing and development 1985. link90107-1) 58 Kluft C, Jie AF, Sprengers ED, Verheijen JH. Identification of a reversible inhibitor of plasminogen activators in blood plasma. FEBS letters 1985. link81309-0) 59 Allen YS, Roberts GW, Bloom SR, Crow TJ, Polak JM. Neuropeptide Y in the stria terminalis: evidence for an amygdalofugal projection. Brain research 1984. link90193-8) 60 Ruggiero DA, Baker H, Joh TH, Reis DJ. Distribution of catecholamine neurons in the hypothalamus and preoptic region of mouse. The Journal of comparative neurology 1984. link 61 Köhler C, Eriksson LG. An immunohistochemical study of somatostatin and neurotensin positive neurons in the septal nuclei of the rat brain. Anatomy and embryology 1984. link 62 Uddman R, Alumets J, Edvinsson L, Håkanson R, Sundler F. VIP nerve fibres around peripheral blood vessels. Acta physiologica Scandinavica 1981. link 63 Harper PS, Marks R, Dykes PJ, Young ID. Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship. Journal of medical genetics 1980. link 64 Krisch B, Leonhardt H, Buchheim W. The functional and structural border between the CSF- and blood-milieu in the circumventricular organs (organum vasculosum laminae terminalis, subfornical organ, area postrema) of the rat. Cell and tissue research 1978. link

    Original source

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      Dental sedation permit requirements for physician anesthesiologists in the United States and the European Union: a review. — Yun S, Martin-Orr N, Hendrix M Current opinion in anaesthesiology (2024)
    2. [2]
      Too Important for the Bureaucrats: Rethinking Risk and Regulatory Presumptions in Times of Crisis. — Toomey J American journal of law & medicine (2021)
    3. [3]
      An updated field guide for snark hunting: Comparative contributions to behavioral neuroendocrinology in the era of model organisms. — Thompson RR Hormones and behavior (2020)
    4. [4]
      A role for taste receptors in (neuro)endocrinology? — Behrens M, Meyerhof W Journal of neuroendocrinology (2019)
    5. [5]
      New European Regulation for Medical Devices: What Is Changing? — Martelli N, Eskenazy D, Déan C, Pineau J, Prognon P, Chatellier G et al. Cardiovascular and interventional radiology (2019)
    6. [6]
      Spotlight on early-career researchers: an interview with Kate Miroshnikova. Communications biology (2019)
    7. [7]
      Vitamin D (1,25(OH) — Dimeloe S, Rice LV, Chen H, Cheadle C, Raynes J, Pfeffer P et al. The Journal of steroid biochemistry and molecular biology (2019)
    8. [8]
      Impossible "Choices": The Inherent Harms of Regulating Women's Testosterone in Sport. — Karkazis K, Carpenter M Journal of bioethical inquiry (2018)
    9. [9]
      Understanding Professional Jurisdiction Changes in the Field of Anesthesiology. — Feyereisen S, Broschak JP, Goodrick B Medical care research and review : MCRR (2018)
    10. [10]
      Accreditation and regulatory implications of electronic health records for laboratory reporting. — Castellani WJ, Sinard JH, Wilkerson ML, Whitsitt MS, Henricks WH Archives of pathology & laboratory medicine (2015)
    11. [11]
      Current good manufacturing practice in manufacturing, processing, packing, or holding of drugs; revision of certain labeling controls. Final rule. Federal register (2012)
    12. [12]
      Recertification and continuing professional development: The way ahead. — Mahmood T Best practice & research. Clinical obstetrics & gynaecology (2010)
    13. [13]
      Selected aspects of europeization of pharmaceutical law. — Zimmermann A, Wengler L, Pawłowski L Acta poloniae pharmaceutica (2010)
    14. [14]
      Regulating medicines in Croatia: five-year experience of Agency for Medicinal Products and Medical Devices. — Tomić S, Filipović Sucić A, Plazonić A, Truban Zulj R, Macolić Sarinić V, Cudina B et al. Croatian medical journal (2010)
    15. [15]
      ASAS centennial paper: animal growth and development research: historical perspectives. — Etherton TD Journal of animal science (2009)
    16. [16]
      Grinding to a halt: the effects of the increasing regulatory burden on research and quality improvement efforts. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America (2009)
    17. [17]
      Special regulatory T-cell review: A rose by any other name: from suppressor T cells to Tregs, approbation to unbridled enthusiasm. — Germain RN Immunology (2008)
    18. [18]
      WHO Expert Committee on biological standardization. World Health Organization technical report series (2007)
    19. [19]
      Physicians' understanding of the regulation of dietary supplements. — Ashar BH, Rice TN, Sisson SD Archives of internal medicine (2007)
    20. [20]
      Internalization of seasonal time. — Prendergast BJ Hormones and behavior (2005)
    21. [21]
      Serine-deficiency syndromes. — de Koning TJ, Klomp LW Current opinion in neurology (2004)
    22. [22]
      Trials and tribulations: a primer on successfully navigating the waters of the Food and Drug Administration. — Feinsod M, Chambers WA Ophthalmology (2004)
    23. [23]
      Establishing pan-European clinical trials: regulatory compliance and other practical considerations. — Grienenberger A The journal of biolaw & business (2004)
    24. [24]
      Pharmaceuticals, the state and the global harmonisation process. — Abraham J Australian health review : a publication of the Australian Hospital Association (2004)
    25. [25]
      Medical restrictive covenants in Illinois: at the crossroads of Carter-Shields and Prairie Eye Center. — Gimbel S, Zaremski MJ Annals of health law (2003)
    26. [26]
      Identification of cGnRH-II in the median eminence of Japanese quail (Coturnix coturnix japonica). — Clerens S, D'Hondt E, Berghman LR, Vandesande F, Arckens L General and comparative endocrinology (2003)
    27. [27]
      Somatostatin-like immunoreactivity in the brain of the urodele amphibian Pleurodeles waltl. Colocalization with catecholamines and nitric oxide. — González A, Moreno N, Morona R, López JM Brain research (2003)
    28. [28]
      Neuroendocrinology of song behavior and avian brain plasticity: multiple sites of action of sex steroid hormones. — Ball GF, Riters LV, Balthazart J Frontiers in neuroendocrinology (2002)
    29. [29]
      Proteomics of the eukaryotic transcription machinery: identification of proteins associated with components of yeast TFIID by multidimensional mass spectrometry. — Sanders SL, Jennings J, Canutescu A, Link AJ, Weil PA Molecular and cellular biology (2002)
    30. [30]
      Immunologists getting nervous: neuropeptides, dendritic cells and T cell activation. — Lambrecht BN Respiratory research (2001)
    31. [31]
      Organizing state dermatologic societies. — Lober CW Dermatologic clinics (2000)
    32. [32]
      New and clarified safe harbors may ease certain provider transactions. — Glaser DL, Bloomquist CE Healthcare financial management : journal of the Healthcare Financial Management Association (2000)
    33. [33]
      "Virtual rat": a tool for understanding hormonal regulation of gastrointestinal function. — Hsu CT, Bailey CM, DiCarlo SE The American journal of physiology (1999)
    34. [34]
      The medical dictionary for regulatory activities (MedDRA). — Brown EG, Wood L, Wood S Drug safety (1999)
    35. [35]
      Medical devices; exemption from premarket notification and reserved devices; Class I--FDA. Proposed rule. Federal register (1998)
    36. [36]
      The Pew Commission Report: nursing's challenge to address it. — Donaho BA ANNA journal (1997)
    37. [37]
      ANNA's brief of the response to the report of the taskforce on health care workforce regulation. — Mudge C, Price CA ANNA journal (1997)
    38. [38]
      CE marking & the MDD: what difference will the new regulations make? — Lindley E EDTNA/ERCA journal (English ed.) (1996)
    39. [39]
      The clinical pharmacologist in drug regulation: a European perspective. — Rawlins MD British journal of clinical pharmacology (1996)
    40. [40]
      Purification and characterization of a novel form of brain L-glutamate decarboxylase. A Ca(2+)-dependent peripheral membrane protein. — Nathan B, Hsu CC, Bao J, Wu R, Wu JY The Journal of biological chemistry (1994)
    41. [41]
      A polyadenylation factor subunit is the human homologue of the Drosophila suppressor of forked protein. — Takagaki Y, Manley JL Nature (1994)
    42. [42]
      An Escherichia coli K-12 tktA tktB mutant deficient in transketolase activity requires pyridoxine (vitamin B6) as well as the aromatic amino acids and vitamins for growth. — Zhao G, Winkler ME Journal of bacteriology (1994)
    43. [43]
      Activation-induced cell death (apoptosis) of mature peripheral T lymphocytes. — Kabelitz D, Pohl T, Pechhold K Immunology today (1993)
    44. [44]
      Cytokine production during sleep and wakefulness and its relationship to cortisol in healthy humans. — Hohagen F, Timmer J, Weyerbrock A, Fritsch-Montero R, Ganter U, Krieger S et al. Neuropsychobiology (1993)
    45. [45]
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    46. [46]
      Immunochemical and biological analysis of pheromone biosynthesis activating neuropeptide in Heliothis peltigera. — Gazit Y, Dunkelblum E, Ben-Aziz O, Altstein M Archives of insect biochemistry and physiology (1992)
    47. [47]
      Tests of the adaptive modulation hypothesis for dietary control of intestinal nutrient transport. — Karasov WH The American journal of physiology (1992)
    48. [48]
      Federal antitrust jurisdiction in peer review cases: the Pinhas decision. — Busey RC Hospital law newsletter (1991)
    49. [49]
      A survey of Missouri doctors of optometry who have not been certified to use therapeutic pharmaceutical agents. — McAlister WH Journal of the American Optometric Association (1990)
    50. [50]
      Purification and characterization of mRNA cap-binding protein from Drosophila melanogaster embryos. — Maroto FG, Sierra JM Molecular and cellular biology (1989)
    51. [51]
      In vivo dynamics of luteinizing hormone secretion and clearance in man: assessment by deconvolution mechanics. — Veldhuis JD, Johnson ML The Journal of clinical endocrinology and metabolism (1988)
    52. [52]
      Negative feedback regulation of the content of proenkephalin mRNA in chromaffin cell cultures. — Naranjo JR, Wise BC, Mellstrom B, Costa E Neuropharmacology (1988)
    53. [53]
      Hormone-dependent processing of the avian progesterone receptor. — Sullivan WP, Smith DF, Beito TG, Krco CJ, Toft DO Journal of cellular biochemistry (1988)
    54. [54]
      Neuropeptide Y-like immunoreactivity in bullfrog sympathetic ganglia is restricted to C cells. — Horn JP, Stofer WD, Fatherazi S The Journal of neuroscience : the official journal of the Society for Neuroscience (1987)
    55. [55]
      Distribution of phenylethanolamine-N-methyltransferase (PNMT)-immunoreactive neurons in the avian brain. — Steeves JD, Taccogna CA, Bell KA, Vincent SR Neuroscience letters (1987)
    56. [56]
      Rapid diagnosis of Zellweger syndrome and infantile Refsum's disease by fast atom bombardment--mass spectrometry of urine bile salts. — Lawson AM, Madigan MJ, Shortland D, Clayton PT Clinica chimica acta; international journal of clinical chemistry (1986)
    57. [57]
      Sexually dimorphic age-related changes in the distribution of immunoreactive luteinizing hormone releasing hormone in the platyfish. — Schreibman MP, Halpern-Sebold L, Margolis-Nunno H Mechanisms of ageing and development (1985)
    58. [58]
      Identification of a reversible inhibitor of plasminogen activators in blood plasma. — Kluft C, Jie AF, Sprengers ED, Verheijen JH FEBS letters (1985)
    59. [59]
      Neuropeptide Y in the stria terminalis: evidence for an amygdalofugal projection. — Allen YS, Roberts GW, Bloom SR, Crow TJ, Polak JM Brain research (1984)
    60. [60]
      Distribution of catecholamine neurons in the hypothalamus and preoptic region of mouse. — Ruggiero DA, Baker H, Joh TH, Reis DJ The Journal of comparative neurology (1984)
    61. [61]
      An immunohistochemical study of somatostatin and neurotensin positive neurons in the septal nuclei of the rat brain. — Köhler C, Eriksson LG Anatomy and embryology (1984)
    62. [62]
      VIP nerve fibres around peripheral blood vessels. — Uddman R, Alumets J, Edvinsson L, Håkanson R, Sundler F Acta physiologica Scandinavica (1981)
    63. [63]
      Ichthyosis, hepatosplenomegaly, and cerebellar degeneration in a sibship. — Harper PS, Marks R, Dykes PJ, Young ID Journal of medical genetics (1980)
    64. [64]
      The functional and structural border between the CSF- and blood-milieu in the circumventricular organs (organum vasculosum laminae terminalis, subfornical organ, area postrema) of the rat. — Krisch B, Leonhardt H, Buchheim W Cell and tissue research (1978)
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