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glycerol and Adrenal Insufficiency

glycerol has been researched along with Adrenal Insufficiency in 13 studies

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Adrenal Insufficiency: Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.

Research Excerpts

ExcerptRelevanceReference
"We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency."7.69Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. ( Clarke, LA; Cole, DE; Riddell, DC; Salisbury, S; Samson, KA; Seltzer, WK, 1994)
"In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients."7.67Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. ( Davies, KE; Dillon, MJ; Dunger, DB; Lake, B; Pearson, P; Pembrey, M; Whitfield, A; Williams, D, 1986)
"We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay."7.67Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. ( Bartley, JA; Davenport, S; Goldstein, D; Patil, S; Pickens, J, 1986)
"We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency."3.69Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. ( Clarke, LA; Cole, DE; Riddell, DC; Salisbury, S; Samson, KA; Seltzer, WK, 1994)
"Infantile glycerol kinase deficiency (GKD) is an X-linked genetic disease characterized clinically by adrenal insufficiency and muscular dystrophy."3.67Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. ( Beckenkamp, G; Kohlschütter, A; Kruse, K; McCabe, ER; Rohkamm, R; Schäfer, HJ; Schlamp, D; Willig, HP, 1987)
"In studies of the X chromosomes of two unrelated boys with adrenal hypoplasia, glycerol kinase deficiency, Duchenne muscular dystrophy, and mental retardation, conventional G banding did not reveal any numerical or structural abnormality, but direct DNA analysis with the X short-arm probes 754, C7, and OCT revealed a deletion in 1 of these patients."3.67Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. ( Davies, KE; Dillon, MJ; Dunger, DB; Lake, B; Pearson, P; Pembrey, M; Whitfield, A; Williams, D, 1986)
"We report an interstitial deletion in the short arm of the X chromosome in a 6-year-old boy with Duchenne muscular dystrophy, glycerol kinase deficiency, adrenal insufficiency, intermittent hypoglycemia, spasticity, psychomotor retardation, and growth delay."3.67Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. ( Bartley, JA; Davenport, S; Goldstein, D; Patil, S; Pickens, J, 1986)
" We present a case of CGKD that was initially misdiagnosed and died during treatment in our hospital in terms of improving our understanding of the clinical features and diagnosis of this disease, as well as highlighting the need for more precise dosing of corticosteroid replacement therapy."1.72Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report. ( Chen, Y; Liu, X; Su, Y; Sun, M; Tao, N; Xu, F, 2022)
"Another child has intermittent coma, a normal IQ, and no evidence of adrenal insufficiency."1.27Human glycerol kinase deficiency: an inborn error of compartmental metabolism. ( McCabe, ER, 1983)

Research

Studies (13)

TimeframeStudies, this research(%)All Research%
pre-19907 (53.85)18.7374
1990's1 (7.69)18.2507
2000's3 (23.08)29.6817
2010's1 (7.69)24.3611
2020's1 (7.69)2.80

Authors

AuthorsStudies
Tao, N1
Liu, X1
Chen, Y1
Sun, M1
Xu, F1
Su, Y1
Almontashiri, NAM1
Berry, GT1
Majzoub, J1
Peake, RWA1
Hellerud, C1
Adamowicz, M1
Jurkiewicz, D1
Taybert, J1
Kubalska, J1
Ciara, E1
Popowska, E1
Ellis, JR1
Lindstedt, S1
Pronicka, E1
Li, XZ1
Liu, L1
Mei, HF1
Yoshimoto, M1
Takayanagi, T1
Nagayoshi, T1
Baba, T1
Tsuji, Y1
Bartley, JA2
Miller, DK1
Hayford, JT1
McCabe, ER3
Cole, DE1
Clarke, LA1
Riddell, DC1
Samson, KA1
Seltzer, WK1
Salisbury, S1
Sjarif, DR1
Ploos van Amstel, JK1
Duran, M1
Beemer, FA1
Poll-The, BT1
Kohlschütter, A1
Willig, HP1
Schlamp, D1
Kruse, K1
Schäfer, HJ1
Beckenkamp, G1
Rohkamm, R1
Søvik, O1
Jellum, E1
Madsen, B1
Dunger, DB1
Davies, KE1
Pembrey, M1
Lake, B1
Pearson, P1
Williams, D1
Whitfield, A1
Dillon, MJ1
Patil, S1
Davenport, S1
Goldstein, D1
Pickens, J1

Reviews

1 review available for glycerol and Adrenal Insufficiency

ArticleYear
Isolated and contiguous glycerol kinase gene disorders: a review.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:6

    Topics: Adrenal Insufficiency; Amino Acid Sequence; Carbohydrate Metabolism, Inborn Errors; Genetic Linkage;

2000

Other Studies

12 other studies available for glycerol and Adrenal Insufficiency

ArticleYear
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.
    BMC pediatrics, 2022, 09-01, Volume: 22, Issue:1

    Topics: Adrenal Insufficiency; Adrenocorticotropic Hormone; Child; China; Delayed Diagnosis; Glycerol; Glyce

2022
Abnormal Glycerol Metabolism in a Child with Global Developmental Delay, Adrenal Insufficiency, and Intellectual Disability.
    Clinical chemistry, 2018, Volume: 64, Issue:12

    Topics: Adrenal Insufficiency; Child, Preschool; DAX-1 Orphan Nuclear Receptor; Developmental Disabilities;

2018
Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.
    Molecular genetics and metabolism, 2003, Volume: 79, Issue:3

    Topics: Adrenal Insufficiency; Chromosomes, Human, X; DAX-1 Orphan Nuclear Receptor; DNA Mutational Analysis

2003
[Complex glycerol kinase deficiency in three children].
    Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2007, Volume: 9, Issue:5

    Topics: Adrenal Insufficiency; Diagnosis, Differential; Genetic Diseases, X-Linked; Glycerol; Glycerol Kinas

2007
[Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?].
    No to hattatsu = Brain and development, 1984, Volume: 16, Issue:4

    Topics: Adrenal Insufficiency; Child, Preschool; Glycerol; Glycerol Kinase; Humans; Male; Muscular Diseases;

1984
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.
    Lancet (London, England), 1982, Oct-02, Volume: 2, Issue:8301

    Topics: Adrenal Glands; Adrenal Insufficiency; Child, Preschool; Female; Genetic Linkage; Glycerol; Glycerol

1982
Human glycerol kinase deficiency: an inborn error of compartmental metabolism.
    Biochemical medicine, 1983, Volume: 30, Issue:2

    Topics: Adrenal Insufficiency; Adult; Aged; Child; Child, Preschool; Coma; Female; Fibroblasts; Glycerol; Gl

1983
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.
    Clinical chemistry, 1994, Volume: 40, Issue:11 Pt 1

    Topics: Adrenal Insufficiency; Blotting, Southern; Chromosome Mapping; Gene Deletion; Glycerol; Glycerol Kin

1994
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.
    European journal of pediatrics, 1987, Volume: 146, Issue:6

    Topics: Adrenal Insufficiency; Glycerol; Glycerol Kinase; Humans; Infant, Newborn; Intellectual Disability;

1987
Glyceroluria with adrenocortical insufficiency, developmental delay and early death.
    Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3

    Topics: Adrenal Insufficiency; Glycerol; Glycerol Kinase; Humans; Infant, Newborn; Male; Phosphotransferases

1988
Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
    Lancet (London, England), 1986, Mar-15, Volume: 1, Issue:8481

    Topics: Adrenal Insufficiency; Child; Child, Preschool; Chromosome Banding; Chromosome Deletion; DNA; Glycer

1986
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.
    The Journal of pediatrics, 1986, Volume: 108, Issue:2

    Topics: Adrenal Insufficiency; Child; Chromosome Banding; Chromosome Deletion; Chromosome Mapping; Female; G

1986