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Deficiency Disease

MedGen UID:
4169
•Concept ID:
C0011156
•
Disease or Syndrome
Synonyms: Deficiency Diseases; Disease, Deficiency; Diseases, Deficiency

Definition

A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) [from MeSH]

Professional guidelines

PubMed

Treatment options in hypoparathyroidism.
Sakane EN, Vieira MCC, Vieira GMM, Maeda SS
Arch Endocrinol Metab 2022 Nov 11;66(5):651-657. doi: 10.20945/2359-3997000000554. PMID: 36382754Free PMC Article
The role of vitamin C in the treatment of pain: new insights.
Carr AC, McCall C
J Transl Med 2017 Apr 14;15(1):77. doi: 10.1186/s12967-017-1179-7. PMID: 28410599Free PMC Article
Therapeutic management of primary immunodeficiency in older patients.
Verma N, Thaventhiran A, Gathmann B; ESID Registry Working Party, Thaventhiran J, Grimbacher B
Drugs Aging 2013 Jul;30(7):503-12. doi: 10.1007/s40266-013-0079-7. PMID: 23605785

Recent clinical studies

Etiology

Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia.
Hu H, Cheng J, Lin S, Wang S, Chen X
J Cardiovasc Pharmacol 2020 Nov;76(5):506-513. doi: 10.1097/FJC.0000000000000890. PMID: 33165132
Global Vitamin C Status and Prevalence of Deficiency: A Cause for Concern?
Rowe S, Carr AC
Nutrients 2020 Jul 6;12(7) doi: 10.3390/nu12072008. PMID: 32640674Free PMC Article
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, Hsu AP, Palmer CL, Kenney CM, Avila DN, Holland SM, Katz JD
Sci Rep 2020 May 20;10(1):8305. doi: 10.1038/s41598-020-64852-1. PMID: 32433473Free PMC Article
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC
Int J Mol Sci 2020 May 13;21(10) doi: 10.3390/ijms21103448. PMID: 32414121Free PMC Article
Repercussions of inborn errors of immunity on growth.
Goudouris ES, Segundo GRS, Poli C
J Pediatr (Rio J) 2019 Mar-Apr;95 Suppl 1:49-58. Epub 2018 Dec 26 doi: 10.1016/j.jped.2018.11.006. PMID: 30593791

Diagnosis

Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF
Br J Biomed Sci 2022;79:10382. Epub 2022 May 19 doi: 10.3389/bjbs.2022.10382. PMID: 35996497Free PMC Article
Pellagra in South Africa from 1897 to 2019: a scoping review.
Viljoen M, Bipath P, Tosh C
Public Health Nutr 2021 Jun;24(8):2062-2076. Epub 2021 Mar 26 doi: 10.1017/S1368980021001336. PMID: 33769244Free PMC Article
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.
Segundo GRS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S3-S9. Epub 2020 Oct 26 doi: 10.1016/j.jped.2020.09.007. PMID: 33121930Free PMC Article
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC
Int J Mol Sci 2020 May 13;21(10) doi: 10.3390/ijms21103448. PMID: 32414121Free PMC Article
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H
J Genet Genomics 2015 May 20;42(5):181-94. Epub 2015 May 19 doi: 10.1016/j.jgg.2015.04.003. PMID: 26059767Free PMC Article

Therapy

Treatment options in hypoparathyroidism.
Sakane EN, Vieira MCC, Vieira GMM, Maeda SS
Arch Endocrinol Metab 2022 Nov 11;66(5):651-657. doi: 10.20945/2359-3997000000554. PMID: 36382754Free PMC Article
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF
Br J Biomed Sci 2022;79:10382. Epub 2022 May 19 doi: 10.3389/bjbs.2022.10382. PMID: 35996497Free PMC Article
Perspectives on Genetic Medicine for Cystic Fibrosis.
Smirnikhina SA
Curr Gene Ther 2022;22(5):386-396. doi: 10.2174/1566523222666220720102556. PMID: 35864800
Intravenous vitamin C in the supportive care of cancer patients: a review and rational approach.
Klimant E, Wright H, Rubin D, Seely D, Markman M
Curr Oncol 2018 Apr;25(2):139-148. Epub 2018 Apr 30 doi: 10.3747/co.25.3790. PMID: 29719430Free PMC Article
C-peptide and diabetic kidney disease.
Brunskill NJ
J Intern Med 2017 Jan;281(1):41-51. Epub 2016 Sep 19 doi: 10.1111/joim.12548. PMID: 27640884

Prognosis

Genetic Anomalies of Growth Hormone Deficiency in Pediatrics.
Firouzi M, Sherkatolabbasieh H, Shafizadeh S
Endocr Metab Immune Disord Drug Targets 2021;21(2):288-297. doi: 10.2174/1871530320666200704144912. PMID: 32621723
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, Hsu AP, Palmer CL, Kenney CM, Avila DN, Holland SM, Katz JD
Sci Rep 2020 May 20;10(1):8305. doi: 10.1038/s41598-020-64852-1. PMID: 32433473Free PMC Article
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H
J Genet Genomics 2015 May 20;42(5):181-94. Epub 2015 May 19 doi: 10.1016/j.jgg.2015.04.003. PMID: 26059767Free PMC Article
The consequences of not having eosinophils.
Gleich GJ, Klion AD, Lee JJ, Weller PF
Allergy 2013 Jul;68(7):829-35. Epub 2013 Jun 6 doi: 10.1111/all.12169. PMID: 23742015Free PMC Article
Immune deficiency and autoimmunity.
Atkinson TP
Curr Opin Rheumatol 2012 Sep;24(5):515-21. doi: 10.1097/BOR.0b013e32835680c6. PMID: 22820513

Clinical prediction guides

Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.
Segundo GRS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S3-S9. Epub 2020 Oct 26 doi: 10.1016/j.jped.2020.09.007. PMID: 33121930Free PMC Article
Genetic Anomalies of Growth Hormone Deficiency in Pediatrics.
Firouzi M, Sherkatolabbasieh H, Shafizadeh S
Endocr Metab Immune Disord Drug Targets 2021;21(2):288-297. doi: 10.2174/1871530320666200704144912. PMID: 32621723
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency.
Amarnani AA, Poladian KR, Marciano BE, Daub JR, Williams SG, Livinski AA, Hsu AP, Palmer CL, Kenney CM, Avila DN, Holland SM, Katz JD
Sci Rep 2020 May 20;10(1):8305. doi: 10.1038/s41598-020-64852-1. PMID: 32433473Free PMC Article
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H
J Genet Genomics 2015 May 20;42(5):181-94. Epub 2015 May 19 doi: 10.1016/j.jgg.2015.04.003. PMID: 26059767Free PMC Article
The consequences of not having eosinophils.
Gleich GJ, Klion AD, Lee JJ, Weller PF
Allergy 2013 Jul;68(7):829-35. Epub 2013 Jun 6 doi: 10.1111/all.12169. PMID: 23742015Free PMC Article

Recent systematic reviews

Nutritional Deficiency Disease Secondary to ARFID Symptoms Associated with Autism and the Broad Autism Phenotype: A Qualitative Systematic Review of Case Reports and Case Series.
Yule S, Wanik J, Holm EM, Bruder MB, Shanley E, Sherman CQ, Fitterman M, Lerner J, Marcello M, Parenchuck N, Roman-White C, Ziff M
J Acad Nutr Diet 2021 Mar;121(3):467-492. Epub 2020 Nov 19 doi: 10.1016/j.jand.2020.10.017. PMID: 33221247
A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.
Schlotawa L, Preiskorn J, Ahrens-Nicklas R, Schiller S, Adang LA, Gärtner J, Friede T
J Inherit Metab Dis 2020 Nov;43(6):1288-1297. Epub 2020 Jul 22 doi: 10.1002/jimd.12282. PMID: 32621519
Cough in Ambulatory Immunocompromised Adults: CHEST Expert Panel Report.
Rosen MJ, Ireland B, Narasimhan M, French C, Irwin RS; CHEST Expert Cough Panel
Chest 2017 Nov;152(5):1038-1042. Epub 2017 Aug 19 doi: 10.1016/j.chest.2017.07.039. PMID: 28830820Free PMC Article
Life with a Primary Immune Deficiency: a Systematic Synthesis of the Literature and Proposed Research Agenda.
Similuk MN, Wang A, Lenardo MJ, Erby LH
J Clin Immunol 2016 Feb;36(2):123-33. Epub 2016 Feb 12 doi: 10.1007/s10875-016-0241-1. PMID: 26873708
The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects.
Brower KS, Del Vecchio MT, Aronoff SC
BMC Pediatr 2014 Dec 10;14:4. doi: 10.1186/s12887-014-0299-y. PMID: 25492164Free PMC Article

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