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Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Ángel Campos-Barros, Carmen Camarena, Dolores Lledín, Elena Vallespín, Ángela Del Pozo, Rocío Mena, Pablo Lapunzina, Sonia Rodríguez-Nóvoa
Glucogenosis type IX is caused by pathogenic variants of the PHKA2 gene. Herein, we report a patient with clinical symptoms compatible with Glycogen Storage Disease type IXa. PYGL, PHKA1, PHKA2, PHKB and PHKG2 genes were analyzed by Next Generation Sequencing (NGS). We identified the previously undescribed hemizygous missense variant NM_000292.2(PHKA2):c.1963G > A, p.(Glu655Lys) in PHKA2 exon 18. In silico analyses showed two possible pathogenic consequences: it affects a highly conserved amino acid and disrupts the exon 18 canonical splice donor site...
March 2017: Molecular Genetics and Metabolism Reports
Eduard Sanjurjo, Montserrat Laguno, Josep Lluís Bedini, Oscar Miró, Josep Maria Grau
BACKGROUND AND OBJECTIVE: The forearm ischemic exercise test (FIET) with serial lactate determinations is used worldwide for the screening of McArdle's disease and other glucogenosis. Yet there is no uniformity with regard to the intensity of the work and the ischemia time. The aim of this study was to standardize the test conditions in normal people and to check its efficacy in our population. PATIENTS AND METHOD: In a first stage, we included 9 healthy persons in whom four different conditions were applied regarding the cuff pressure and ischemia time...
May 29, 2004: Medicina Clínica
J Arenas, M A Martín
Exercise intolerance (EI) is a frequent cause of medical attention, although it is sometimes difficult to come to a final diagnosis. However, there is a group of patients in whom EI is due to a metabolic dysfunction. McArdle's disease (type V glucogenosis) is due to myophosphorylase (MPL) deficiency. The ischemic exercise test shows a flat lactate curve. The most frequent mutations in the PYGM gene (MPL gene) in Spanish patients with MPL deficiency are R49X and W797R. Carnitine palmitoyltransferase (CPT) II deficiency is invariably associated to repetitive episodes of myoglobinuria triggered by exercise, cold, fever or fasting...
July 2003: Neurología: Publicación Oficial de la Sociedad Española de Neurología
F M Méndez Aparicio
A case of liver glycogen storage disease with amylo 1,6-glucosidase deficiency is reported. Enlarged liver was found at birth, and it is now accompanied by splenomegaly, low fasting blood glucose with ketonuria, elevation of transaminase values and glycogen accumulation with connective periportal tissue in liver histological study. In this glucogenosis results of functional tests on carbohidrate metabolism and glycogen enzymatic assay showed a direct relationship between functional and biochemical behaviour of liver cells...
October 1980: Anales Españoles de Pediatría
M J López, A Escribano, J Brines, J Colomer
Two new patients of glucogenosis type I, fed with a special diet, are described. Various indicated treatments to correct metabolic alterations of the disease were revised (diet, drugs, surgery). Different forms of therapy are compared according with results obtained. Metabolic acidosis and hypoglycemia improved. Growing rate and hyperlypemia did not improved. Uricemic acid levels with alopurinol got normal. Possible implications of this results are discussed.
August 1980: Anales Españoles de Pediatría
R Hernández-Pando, A Velázquez, A Mallet, J P Chambers, J C Williams, E Prieto
No abstract text is available yet for this article.
July 1983: Boletín Médico del Hospital Infantil de México
K Brass
No abstract text is available yet for this article.
1974: Zeitschrift Für Kinderheilkunde
C M Czarnecki, A Salam, R Caldwell, E F Jankus
Furazolidone (FZ) at 700 and 800 p.p.m. was added to feed mixtures fed turkey poults two and three weeks posthatching, respectively, to induce acute experimental cardiomyopathy. Poults in the control pen received the same ration but without FZ. From EKG data obtained at 2, 4, and 5 weeks of age, control unaffected and experimental affected poults were selected for sacrifice. Poults were sacrificed by cervical dislocation and appropriate samples of hepatic tissue were removed for assays of activity of alpha-1, 4-glucosidase...
January 1978: Poultry Science
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