Arch Fr Pediatr. 1975 Feb;32(2):113-21.

[Fructose 1,6-diphosphatase deficiency in 2 sisters].

[Article in French]

Odievre M, Brivet M, Moatti N, Dreyfus JC, Beaufils F, Lejeune C, Feffer J.

Abstract

The discovery of a fructose-1,6-diphosphatase deficiency in two sisters leads to the discussion of the various loading tests which are required for the diagnosis. The diagnosis may be discussed clinically with type I glycogenosis, and biologically with hereditary fructose intolerance. The specific characteristics of these disorders are analyzed as well as the problem of fructose induced hypoglucosemia. The failure of the treatment with folic acid in one of the cases leads to emphasize the suppression of prolonged fast in order to avoid acute accidents.

PMID:: 175754; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Molecular Biology Databases

FOLIC ACID - HSDB

Supplemental Content

Save items

Related citations in PubMed

[Differential diagnosis between hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency]. [Rev Clin Esp. 1981]
[Differential diagnosis between hereditary fructose intolerance and fructose-1,6-diphosphatase deficiency].
Méndez Aparicio FM. Rev Clin Esp. 1981 Jun 15-30; 161(5-6):289-96.
[Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency]. [Arch Fr Pediatr. 1975]
[Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency].
Retbi JM, Gabilan JC, Marsac C. Arch Fr Pediatr. 1975 Apr; 32(4):367-80.
Disorders of fructose metabolism. [Clin Endocrinol Metab. 1976]
Disorders of fructose metabolism.
Froesch ER. Clin Endocrinol Metab. 1976 Nov; 5(3):599-611.
Review Disorders of gluconeogenesis. [J Inherit Metab Dis. 1996]
Review Disorders of gluconeogenesis.
van den Berghe G. J Inherit Metab Dis. 1996; 19(4):470-7.
Review [Hypoglycemias in childhood. Pathophysiologic reflections and examples of hypoglycemias in hereditary disorders of carbohydrate metabolism]. [Monatsschr Kinderheilkd. 1988]
Review [Hypoglycemias in childhood. Pathophysiologic reflections and examples of hypoglycemias in hereditary disorders of carbohydrate metabolism].
Baerlocher K. Monatsschr Kinderheilkd. 1988 Sep; 136(9):597-605.

See reviews... See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound
PubChem chemical compound records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records. Multiple substance records may contribute to the PubChem compound record.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance
PubChem chemical substance records that cite the current articles. These references are taken from those provided on submitted PubChem chemical substance records.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.

Recent activity

Clear Turn Off Turn On

[Fructose 1,6-diphosphatase deficiency in 2 sisters].
[Fructose 1,6-diphosphatase deficiency in 2 sisters].
Arch Fr Pediatr. 1975 Feb ;32(2):113-21.

PubMed
Analysis of factors causing hyperkalemia.
Analysis of factors causing hyperkalemia.
Intern Med. 2007 ;46(12):823-9. Epub 2007 Jun 15 .

PubMed
Spatio-temporal control of gene expression and cancer treatment using magnetic r...
Spatio-temporal control of gene expression and cancer treatment using magnetic resonance imaging-guided focused ultrasound.
Clin Cancer Res. 2007 Jun 15 ;13(12):3482-9.

PubMed
Evaluation of different plate media for direct cultivation of Campylobacter spec...
Evaluation of different plate media for direct cultivation of Campylobacter species from live broilers.
Poult Sci. 2007 Jul ;86(7):1304-11.

PubMed
Gravin regulates mesodermal cell behavior changes required for axis elongation d...
Gravin regulates mesodermal cell behavior changes required for axis elongation during zebrafish gastrulation.
Genes Dev. 2007 Jun 15 ;21(12):1559-71.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: