Disease Information for Phosphoglycerate Kinase Deficiency/Systemic homozygous PGKD

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Clinical Manifestations
Signs & Symptoms
Cramping in Extremities
Exertional Muscle Pain
Muscle cramps/spasms
Muscle Pain
Muscle pains/exercise induced
Myalgias
Stiffness
Aphasia
Dysphasia
Hemiplegic Gait
Mental Deficiency Child
Spasms in Both Legs
Stroke syndrome/signs
Emotional outbursts/tantrums/Hot temper
Emotional/affective lability
Splenomegaly
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Anemia Chronic Severe Not too sick
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant male
Population/Male
Population/Male-only/limit
Laboratory Tests
Microbiology & Serology Findings
Reticulocytosis
Abnormal Lab Findings (Non Measured)
Normocytic anemia
Normocytic Anemia/High Retic count
Normocytic/Normochromic Anemia (Lab)
Abnormal Lab Findings - Increased
Hemoglobin (Lab)
Osmotic fragility, RBC (Lab)
Polychrome RBCs (Lab)
Reticulocytes (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Anemia
Hemiplegia
Hemolysis anemia/acute/active
Hemolytic disease of newborn
Mental retardation
Phosphoglycerate kinase deficiency/RBC
Phosphoglycerate kinase disease/homozygous systemic
RBC Membrane enzyme defects
Disease Synergy - Causes
Synergy/Exercise/severe
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Hematologic (category)
CLASS/Intrinsic RBC abnormality (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Erythrocyte membrane disorder
Pathophysiology/Hemolytic process/effect
Pathophysiology/Non-immune hemolytic anemia
Process
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Synonyms
Synonym
GLYCOGEN STORAGE DIS VIII, Glycogen Storage Disease Type VIII, Glycogen storage disease type VIII (disorder), GLYCOGENOSIS 08, Glycogenosis 8, Glycogenosis due to inactive hepatic glycogen phosphorylase, Glycogenosis due to inactive phosphorylase, glycogenosis type VIII, GSD VIII, Hepatic glyc phos kinase defic, Hepatic glycogen phosphorylase kinase deficiency, Hepatic glycogen phosphorylase kinase deficiency (disorder), Hepatic glycogenosis, Synonym/Heterozygous PGK deficiency RBC only (female), Synonym/Homozygous PGK disease systemic (male)
Definition

Systemic variant is homozygous and male x-linked recessive; female usually have heterozygous hemolysis only; Phosphoglycerate kinase disease (systemic); Anemia, Hemolytic with PGK Deficiency; Erythrocyte Phosphoglycerate Kinase Deficiency, PGK, andPhosphoglycerokinase; Phosphoglycerate kinase deficiency is an extremely rare inherited metabolic disorder characterized by deficiency of the enzyme phosphoglycerate kinase; This enzyme is essential for the breakdown of glycogen, resulting in the release of energy; Symptoms and findings associated with the disorder may include low levels of circulating red blood cells (hemolytic anemia); varying degrees of mental retardation; rapidly changing emotions (emotional lability); an impaired ability to communicate through and/or to comprehend speech or writing (aphasia); exercise-induced pain, stiffness, or cramps; enlargement of the spleen (splenomegaly); and/or paralysis of one side of the body (hemiplegia); In most cases, phosphoglycerate kinase deficiency is inherited as an X-linked genetic trait; In such cases, the disorder is fully expressed in males only; however, some females who carry one copy of the disease gene (heterozygotes) may have hemolytic anemia------- [NORD 2005]-----------

homozygous male includes systemic problems mentally retarded with neurological syndromes; heterozygous female usually just RBC problems with hemolytic anemia;

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External Links Related to Phosphoglycerate Kinase Deficiency/Systemic homozygous PGKD
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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