+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Diet therapy in severe clinical expression of debrancher deficiency

Diet therapy in severe clinical expression of debrancher deficiency

Archivos de Investigacion Medica 22(3-4): 285-288

An eleven year old boy was referred because of sudden loss of consciousness, muscular weakness, poor general health, severe hypoglycemia with seizures and hepatomegaly. Response to oral glucose and galactose increased blood lactic acid and glucose at different times. Fasting values of blood lactic was normal, but glucose was found at 33 mg/dl. Similar test made up two hours after feeding revealed hyperlactatemia (35-50 mg/dL) and hyperglycemia (129 mg/dL). Glucagon did not result in a rise of glucose at fasting or feeding. Hepatic glycogen content was found 15 gm/100 mg of tissue. The enzyme activities revealed a deficiency of the liver debranching enzyme while leukocytes had normal enzyme activity. Hepatic biopsy showed liver fibrosis. The present case had the clinical characteristics of severe form of glycogen storage disease. A low carbohydrate and high protein diet was indicated in order to increase the gluconeogenic precursors. Although debranching enzyme deficiency is almost always benign a high carbohydrate diet induced a more severe expression of the disease.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 039816810

Download citation: RISBibTeXText

PMID: 1844114

Related references

Different clinical aspects of debrancher deficiency myopathy. Journal of Neurology, Neurosurgery, and Psychiatry 67(3): 364-368, 1999

Clinical varieties of neuromuscular disease in debrancher deficiency. Archives of Neurology 41(10): 1027-1032, 1984

Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. Journal of Pediatrics 105(6): 906-911, 1984

Myopathy in debrancher enzyme deficiency. Journal of Pediatrics 107(2): 313-314, 1985

Debrancher deficiency: neuromuscular disorder in 5 adults. Annals of Neurology 5(5): 422-436, 1979

Nervous system involvement in debrancher deficiency. Neurology 39(3 SUPPL 1): 128, 1989

Exercise performance in debrancher deficiency myopathy. Transactions of the American Neurological Association 104: 248-252, 1979

Some properties of fibroblasts from a patient with debrancher deficiency. Journal of Uoeh 12(4): 411-418, 1990

Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy. Journal of Pediatrics 136(4): 560-562, 2000

Severe Hemorrhagic Syndromes Caused by Vitamin K Deficiency During Diarrhea Without Steatorrhea. Severe Vitamin K Deficiency Revealed by a Severe Hemorrhage. Clinical and Physiopathological Remarks. Bulletins et Memoires de la Societe Medicale des Hopitaux de Paris 116: 553-558, 1965

Hetero zygote detection in debrancher deficiency myopathy. Clinical Research: 409a, 1982

Glycogen debrancher deficiency is reproduced in muscle culture. Annals of Neurology 9(3): 283-288, 1981

Debrancher deficiency neuromuscular disorder with pseudohypertrophy in two brothers. Journal of Neurology 236(7): 418-420, 1989

Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. Annals of Neurology 11(4): 420-422, 1982

Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy. Molecular Genetics and Metabolism 84(4): 305-312, 2005