Infantile glycerol kinase deficiency— a condition requiring prompt identification

Kohlschütter, Alfried; Willig, H; Schlamp, D.; Kruse, K.; McCabe, Edward R.B.; Schäfer, Hansjörg; Beckenkamp, G.; Rohkamm, Reinhard

doi:10.1007/bf02467357

Cited by 12 publications

(3 citation statements)

References 28 publications

(20 reference statements)

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“…The diagnosis of GKD was based on the high level of plasma and urinary glycerol and on the decreased GK activity in leukocytes, liver, or adrenal gland. None of the five patients showed a null GK activity; all had a residual activity of a few percent as compared with that of Patil et al, 1986Clarke et al, 1986Kohlschutter et al, 1987Francke et al, 1987Francke et al, 1987 Chelly normal control individuals. The diagnosis of AHC was made from their respective clinical symptoms, high plasma ACTH values, subnormal responses to synthetic ACTH, and the results of adrenal gland scintigraphy.…”

Section: Clinical Datasupporting

confidence: 88%

“…Our patient I and several reported CGKD patients [Renier et al, 1983;Dunger et al, 1986;Wise et al, 1987;Kohlschutter et al, 1987;Goonewardena et al, 19881 had abnormal genitalia and/or gonadotropin deficiency (GTD). In addition, isolated X-linked AHC is often associated with cryptorchidism which probably is due to GTD [Zachmann et al, 19801.…”

Section: Discussionmentioning

confidence: 76%

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Complex glycerol kinase deficiency: Molecular‐genetic, cytogenetic, and clinical studies of five Japanese patients

et al. 1988

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Five male Japanese patients with complex glycerol kinase deficiency (CGKD) and their relatives were studied clinically, cytogenetically, and molecular-genetically. All patients had muscular dystrophy or muscle weakness, mental retardation, congenital adrenal hypoplasia, and glycerol kinase deficiency. High-resolution GTG-banded chromosomes showed a microdeletion in the Xp21 region in all four patients examined and in all five mothers. Southern hybridizations, after digestions by restriction endonucleases, with various cloned DNAs (D2, 99-6, B24, C7, L1-4, cDMD13-14, J66-HI, P20, J-Bir, ERT87-30, ERT87-15, ERT87-8, ERT87-1, XJ-1.1, 754, cx5.7, and OTC-1) that are located around Xp21 also showed a deletion in the genome of all patients and mothers. Although the deletion differed in size among patients, a segment commonly absent was located between the genomic sequences corresponding to L1-4 and cDMD13-14. This finding indicated that the gene coding for glycerol kinase (GK) is located within this segment. A comparison of the clinical manifestations of the present five patients and reported CGKD or Duchenne muscular dystrophy (DMD) patients with DNA deletion suggests the existence of a certain gene responsible for gonadotropin deficiency (GTD). The result of the present study and results of previous studies suggest that genes for ornithine transcarbamylase (OTC), DMD, and GK and putative genes responsible for congenital adrenal hypoplasia (AHC) and GTD are arranged from telomere to centromere as pter--GTD--AHC--GK--DMD--OTC--cen.

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Section: Clinical Datasupporting

confidence: 88%

Section: Discussionmentioning

confidence: 76%

Complex glycerol kinase deficiency: Molecular‐genetic, cytogenetic, and clinical studies of five Japanese patients

et al. 1988

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“…Alternatively, the intracellular glycerol concentration is dramatically increased in certain forms of muscular dystrophy, in diabetes, and during fasting, extreme cold, and ischemia of the heart (46,47). Because the acylation of glycerol is regulated by its availability, the direct acylation pathway may be potentiated during hyperglycerolemia.…”

Section: Discussionmentioning

confidence: 99%

A novel pathway for lipid biosynthesis: the direct acylation of glycerol

Lee

Deonarine

Kienetz

et al. 2001

Journal of Lipid Research

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The acylation of glycerol-3-phosphate by acyl-CoA is regarded as the first committed step for the synthesis of the lipoidal moiety in glycerolipids. The direct acylation of glycerol in mammalian tissues has not been demonstrated. In this study, lipid biosynthesis in myoblasts and hepatocytes was reassessed by conducting pulse-chase experiments with [1,3-3 H]glycerol. The results demonstrated that a portion of labeled glycerol was directly acylated to form monoacylglycerol and, subsequently, diacylglycerol and triacylglycerol. The direct acylation of glycerol became more prominent when the glycerol-3-phosphate pathway was attenuated or when exogenous glycerol levels became elevated. Glycerol:acyl-CoA acyltransferase activity, which is responsible for the direct acylation of glycerol, was detected in the microsomal fraction of heart, liver, kidney, skeletal muscle, and brain tissues. The enzyme from pig heart microsomes displayed optimal activity at pH 6.0 and the preference for arachidonyl-CoA as the acyl donor. The apparent K m values for glycerol and arachidonyl-CoA were 1.1 mM and 0.17 mM, respectively.The present study demonstrates the existence of a novel lipid biosynthetic pathway that may be important during hyperglycerolemia produced in diabetes or other pathological conditions. -Lee, D.

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Åland Island eye disease (Forsius‐Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

Pillers¹,

Weleber²,

Powell³

et al. 1990

Am. J. Med. Genet.

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Glycerol kinase deficiency (GKD) has been described in isolation and in complex phenotypes including either congenital adrenal hypoplasia, Duchenne muscular dystrophy, or both. Cytogenetic and molecular studies have localized these defects to a deletion involving the X chromosome at band Xp21, consistent with its X-linked recessive pattern of inheritance. Other clinical findings in the complex glycerol kinase deficiency (CGKD) patients are mental retardation, short stature, and hypogonadotropic hypogonadism. We report on a 6-year-old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius-Eriksson ocular albinism, also known as type 2 ocular albinism or Aland Island eye disease. Cytogenetic analysis shows an interstitial deletion in the short arm of the X-chromosome at Xp21.

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Infantile glycerol kinase deficiency— a condition requiring prompt identification

Cited by 12 publications

References 28 publications

Complex glycerol kinase deficiency: Molecular‐genetic, cytogenetic, and clinical studies of five Japanese patients

Complex glycerol kinase deficiency: Molecular‐genetic, cytogenetic, and clinical studies of five Japanese patients

A novel pathway for lipid biosynthesis: the direct acylation of glycerol

Åland Island eye disease (Forsius‐Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia

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