Glycogen Storage Disease 0, Muscle: Management and Lifestyle disease
Glycogen Storage Disease 0, Muscle, also known as glycogen storage disease due to muscle and heart glycogen synthase deficiency, is related to glycogen storage disease 0, liver and cardiac arrest. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (Glycogen Synthase 1). Affiliated tissues include heart, liver and ...
Understanding 6-PHT Synthase Deficiency disease
Hyperphenylalaninemia, Bh4-Deficient, a, also known as 6-pyruvoyl-tetrahydropterin synthase deficiency, is related to segawa syndrome, autosomal recessive and personality disorder, and has symptoms including ataxia, muscle rigidity and seizures. An important gene associated with Hyperphenylalaninemia, Bh4-Deficient, a is PTS ...
Combined Factor V and VIII Deficiency Management disease
Factor V and Factor Viii, Combined Deficiency of, 2, also known as factor v and factor viii, combined deficiency of, is related to factor v and factor viii, combined deficiency of, 1 and hereditary combined deficiency of vitamin k-dependent clotting factors. An important gene associated with Factor V and Factor Viii, Combined Deficiency of, ...
Managing Metabolic Disorders: Lifestyle Tips disease
3-Hydroxyacyl-Coa Dehydrogenase Deficiency, also known as hadh deficiency, is related to long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and hyperinsulinemic hypoglycemia, familial, 4, and has symptoms including emaciation An important gene associated with 3-Hydroxyacyl-Coa Dehydrogenase Deficiency is HADH (Hydroxyacyl-CoA ...
Care and Management of Smith-Lemli-Opitz Syndrome disease
Smith-Lemli-Opitz Syndrome, also known as slos, is related to hypercholesterolemia, familial, 1 and hypospadias, and has symptoms including constipation, seizures and vomiting. An important gene associated with Smith-Lemli-Opitz Syndrome is DHCR7 (7-Dehydrocholesterol Reductase), and among its related pathways/superpathways are Metabolism ...