PMCCPMCCPMCC

Search tips
Search criteria 

Advanced

 
Logo of jcinvestThe Journal of Clinical InvestigationCurrent IssueArchiveSubscriptionAbout the Journal
 
J Clin Invest. 1978 January; 61(1): 163–170.
PMCID: PMC372524

Familial hyperglycerolemia.

Abstract

A 70-yr-old mildly diabetic white male was discovered to have an elevated level of serum free glycerol in the range of 75 mg/dl and to excrete about 13 g of free glycerol in the urine per 24 h. During a 24-h fast the urine glycerol loss increased to 21.5 g per 24 h. Studies carried out in vitro using leukocytes prepared from the patient's blood which were incubated with [14C]glycerol demonstrated an almost complete absence of glycerol oxidation to 14CO2 and of glycerol phosphorylation, in contrast to control studies with leukocytes collected from normal subjects. Homogenates of the patient's leukocytes contained negligible activity of ATP:glycerol phosphotransferase (glycerokinase EC 2.7.1.30) as measured by a direct spectrophotometric method. Marked hyperglycerolemia has thus far been detected in one brother and in one son of the daughter of this patient. This evidence suggests an x-linked recessive inheritance pattern of the trait. There is a high prevalence of diabetes mellitus in this family.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.6M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • SHAFRIR E, GORIN E. Release of glycerol in conditions of fat mobilization and deposition. Metabolism. 1963 Jul;12:580–587. [PubMed]
  • VAUGHAN M. The production and release of glycerol by adipose tissue incubated in vitro. J Biol Chem. 1962 Nov;237:3354–3358. [PubMed]
  • BORCHGREVINK CF, HAVEL RJ. TRANSPORT OF GLYCEROL IN HUMAN BLOOD. Proc Soc Exp Biol Med. 1963 Aug-Sep;113:946–949. [PubMed]
  • Cahill GF, Jr, Herrera MG, Morgan AP, Soeldner JS, Steinke J, Levy PL, Reichard GA, Jr, Kipnis DM. Hormone-fuel interrelationships during fasting. J Clin Invest. 1966 Nov;45(11):1751–1769. [PMC free article] [PubMed]
  • Bucolo G, David H. Quantitative determination of serum triglycerides by the use of enzymes. Clin Chem. 1973 May;19(5):476–482. [PubMed]
  • Soloni FG. Simplified manual micromethod for determination of serum triglycerides. Clin Chem. 1971 Jun;17(6):529–534. [PubMed]
  • LEVINE JB, ZAK B. AUTOMATED DETERMINATION OF SERUM TOTAL CHOLESTEROL. Clin Chim Acta. 1964 Oct;10:381–384. [PubMed]
  • TROUT DL, ESTES EH, Jr, FRIEDBERG SJ. Titration of free fatty acids of plasma: a study of current methods and a new modification. J Lipid Res. 1960 Apr;1:199–202. [PubMed]
  • Chandrasekaran A, Glover RJ, Lord PS. A spectrophotometric micro-method for the enzymatic determination of beta-hydroxybutyrate. Clin Chim Acta. 1972 Mar;37:371–380. [PubMed]
  • Aguilar-Parada E, Eisentraut AM, Unger RH. Pancreatic glucagon secretion in normal and diabetic subjects. Am J Med Sci. 1969 Jun;257(6):415–419. [PubMed]
  • HALES CN, RANDLE PJ. Immunoassay of insulin with insulin-antibody precipitate. Biochem J. 1963 Jul;88:137–146. [PubMed]
  • Eisenthal R, Harrison R, Lloyd WJ. Specificity of glycerol kinase. Biochem J. 1974 Jul;141(1):305–307. [PubMed]
  • HAY GW, LEWIS BA, SMITH F. THIN-FILM CHROMATOGRAPHY IN THE STUDY OF CARBOHYDRATES. J Chromatogr. 1963 Aug;11:479–486. [PubMed]
  • WADE HE, MORGAN DM. Detection of phosphate esters on paper chromatograms. Nature. 1953 Mar 21;171(4351):529–530. [PubMed]
  • Bortz WM, Paul P, Haff AC, Holmes WL. Glycerol turnover and oxidation in man. J Clin Invest. 1972 Jun;51(6):1537–1546. [PMC free article] [PubMed]
  • Owen OE, Felig P, Morgan AP, Wahren J, Cahill GF., Jr Liver and kidney metabolism during prolonged starvation. J Clin Invest. 1969 Mar;48(3):574–583. [PMC free article] [PubMed]
  • BUBLITZ C, KENNEDY EP. Synthesis of phosphatides in isolated mitochondria. III. The enzymatic phosphorylation of glycerol. J Biol Chem. 1954 Dec;211(2):951–961. [PubMed]
  • WIELAND O, SUYTER M. Glycerokinase; Isolierung und Eigenschaften des Enzyms. Biochem Z. 1957;329(4):320–331. [PubMed]
  • KRUHOFFER P, NISSEN OI. HANDLING OF GLYCEROL IN THE KIDNEY. Acta Physiol Scand. 1963 Nov;59:284–294. [PubMed]
  • Guisado R, Arieff AI, Massry SG. Effects of glycerol infusions on brain water and electrolytes. Am J Physiol. 1974 Oct;227(4):865–872. [PubMed]

Articles from The Journal of Clinical Investigation are provided here courtesy of American Society for Clinical Investigation