Lecture 36 Flashcards
Phosphorylation of ______-A to form _____-B by the catalytic unit of _____ is inhibitory, which decreases the production of glycogen. This process can be reversed by the hormone _____, which activates protein phosphorylase 1 which dephosphorylates _____-B, converting it to the active form _____-A.
Phosphorylation of GLYCOGEN SYNTHASE-A to form GLYCOGEN SYNTHASE-B by the catalytic unit of PKA. The process can be reversed by INSULIN which activates protein phosphorylase-1 which dephosphorylates GLYCOGEN SYNTHASE-B converting it to GLYCOGEN SYNTHASE-A.
Von Gierke disease (Type Ia Glycogen storage disese) is characterized by a defect in ________, which converts G-6-P to Glucose in the Liver and Kidneys. It can lead to symptoms like Hypoglycemia, enlarged ______, ______ acidosis because of increased rates of glycolysis, and ketosis.
Characterized by a defect in Glucose-6-Phosphatase. It can lead to symptoms like Hypoglycemia, enlarged Liver, Lactic acidosis, and ketosis.
High levels of G-6-P can activate _______, the normally inactive form, which essentially results in continuous formation of glycogen.
It can activate Glycogen synthase-B
Type Ib Glycogen storage disease is characterized by a deficiency in _________, which transports ________ into the lumen of the ______ for hydrolase activity.
Type Ib is characterized by a deficiency in G-6-P TRANSLOCASE, which transports G-6-P into the lumen of the ER for hydrolase activity.
Type II Glycogen storage disease (Pompe disease), a lysosomal storage disease, is characterized by a deficiency in Alpha ________. This could lead to symptoms like enlarged _______ and _______ failure. It is considered the most severe Glycogen storage disease.
Deficiency in ALPHA GLUCOSIDASE which could lead to symptoms like enlarged HEART and CARDIORESPIRATORY failure. Primarily affects heart, liver, and muscle.
Type III glycogen storage disease is characterized by a deficiency in _______ enzyme and a notable Glycogen structure feature of short ______ on fasting. It leads to less severe but similar symptoms as Type I, including enlarged _____, moderate ______, and acidosis.
Deficiency in DEBRANCHING enzyme and notable Glycogen structure feature of short OUTER CHAINS on fasting. Leads to enlarged Liver, moderate Hypoglycemia, and acidosis.
Type IV Glycogen storage disease (Anderson disease) is characterized by a deficiency in ________ enzyme, which leads to a Glycogen structure containing fewer _____ points (amylopectin-like structure.) It can cause cirrhosis and progressive liver failure.
Deficiency in BRANCHING enzyme, which leads to a Glycogen structure containing fewer BRANCH points.
Type V Glycogen storage disease (McArdle disease) is characterized by a deficiency in muscle _______ ______. This can lead to symptoms like muscle ______ on exercise. Similar symptoms can be observed in Type VII because of decreased activity of ____________ in muscle.
Deficiency in muscle GLYCOGEN PHOSPHORYLASE, which can lead to symptoms like muscle CRAMPS on exercise. Similar symptoms can be observed in Type VII because of decreased PHOSPHOFRUCTOKINASE activity in muscle.
Type VI Glycogen storage disease is characterized by a deficiency in liver ______ ______. Symptoms are very similar to Type III, including enlarged ______, moderate ______, and mild ______.
Deficiency in liver GLYCOGEN PHOSPHORYLASE, leading to symptoms like enlarged LIVER, moderate HYPOGLYCEMIA, and mild ACIDOSIS.
Type IX Glycogen storage disease is characterized by a deficiency in liver ______ ______ ______ and is ____-linked recessive. It’s symptoms are the same as Type VI.
Deficiency in liver GLYCOGEN PHOSPHORYLASE KINASE and is X-linked recessive.
