Alternate Metabolic Pathway in Galactosemia

Egan, Thomas J.; Wells, William W.

doi:10.1001/archpedi.1966.02090070098013

Cited by 18 publications

(7 citation statements)

References 13 publications

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“…pentosuria leads to a large deviation in the polyol levels in the central nervous system and peripheral organs (5,14,15). The data presented here show severalfold higher concentrations of mannitol, sorbitol, galactitol, ribitol, arabitol, and myo-inositol in CSF than plasma.…”

Section: Discussionmentioning

confidence: 54%

“…We thus sought to identify metabolites whose altered levels in brain might contribute to pathophysiology relevant to DS. Polyols, the ubiquitous metabolites of sugars, play a significant role in diabetic neuropathy (3), uremic polyneuropathy (4), and galactosemia (5). In these metabolic disorders, decreased Na+/K+ -ATPase, altered electrical properties and other plasma membrane abnormalities are associated with elevated tissue polyols.…”

Section: Introductionmentioning

confidence: 99%

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Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid.

Shetty¹,

Schapiro²,

Holloway³

et al. 1995

J. Clin. Invest.

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Polyols are reduction products of aldoses and ketoses; their concentrations in tissues can reflect carbohydrate metabolism. Several polyol species were quantitated in cerebrospinal fluid (CSF) and plasma from 10 Down Syndrome (trisomy 21) subjects between the ages of 22 and 63 years (3 of whom were demented) and from 10 healthy age-matched controls, using a gas chromatographic/mass spectrometric technique. The mean CSF concentration and the mean CSF/ plasma concentration ratio of myo-inositol were significantly elevated in Down syndrome compared with controls, but were not correlated with the presence of dementia in the Down subjects. Plasma myo-inositol was not significantly altered in these subjects. No significant difference between Down syndrome and controls was found for CSF concentrations of mannitol, sorbitol, galactitol, ribitol, arabitol, or 1,5-anhydrosorbitol, but plasma mannitol, ribitol and arabitol were elevated in Down syndrome. The present observation provides new impetus for studying synthesis and transport of myo-inositol as well as phosphatidylinositol cycle in trisomy 21 disorder. (J. Clin. Invest. 1995. 95:542-546.)

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Section: Discussionmentioning

confidence: 54%

Section: Introductionmentioning

confidence: 99%

Polyol profiles in Down syndrome. myo-Inositol, specifically, is elevated in the cerebrospinal fluid.

Shetty¹,

Schapiro²,

Holloway³

et al. 1995

J. Clin. Invest.

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“…Four modifications were made to improve the previous prepurification procedure (Haga et al, 1972). The first was the use of connected prepacked resin cartridges instead of glass columns, which saved time and prevented the increase of sample volume.…”

Section: Resultsmentioning

confidence: 99%

“…High performance liquid chromatography (HPLC) (Jandera et al., 1974;Honda et al, 1983) and gas chromatography (GC) (Haga et al, 1972;Pfaffenberger et al, 1975Pfaffenberger et al, , 1976Laker, 1980) offer high resolution for the quantitative analysis of polyols. Capillary gas chromatography is particularly suitable since it offers great sensitivity, high resolution and speed.…”

Section: Introductionmentioning

confidence: 99%

Determination of polyol profiles in human urine by capillary gas chromatography

Haga

Nakajima

1989

Biomedical Chromatography

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A new rapid capillary gas chromatographic method is described for the profile analysis of urinary polyols as their trifluoroacetyl derivatives. Ten urinary polyols: erythritol, threitol, fucitol, ribitol, arabinitol, xylitol, mannitol, glucitol, galactitol and myo-inositol were completely determined for the first time. Iditol was newly found in normal urine. Urinary polyols were verified by gas chromatography/mass spectrometry.

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“…Galactitol is formed from galactose by a triphosphopyridine-dependent reductive step involving the activity of an aldose reductase originally demonstrated in seminal vesicles and placenta of the sheep [14], and in lenses [26]. Despite the presence of galactitol in the brain of galactosemic patients [28] and in rats [20], and despite its ready production from galactose by a galactosemic patient as demonstrated by EGAN and WELLS [8], the actual site of production of galactitol found in such tissues is still not known. At present, it is thought that mammals cannot further metabolize it to any significant degree [1012 but there is in fact evidence for an alternative pathway in the utilisation of galactose not involving galactitol.…”

Section: 'Atpmentioning

confidence: 99%