Lecture 36 Flashcards Preview

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Flashcards in Lecture 36 Deck (10)
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1
Q

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.

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.

2
Q

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.

A

Characterized by a defect in Glucose-6-Phosphatase. It can lead to symptoms like Hypoglycemia, enlarged Liver, Lactic acidosis, and ketosis.

3
Q

High levels of G-6-P can activate _______, the normally inactive form, which essentially results in continuous formation of glycogen.

A

It can activate Glycogen synthase-B

4
Q

Type Ib Glycogen storage disease is characterized by a deficiency in _________, which transports ________ into the lumen of the ______ for hydrolase activity.

A

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.

5
Q

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.

A

Deficiency in ALPHA GLUCOSIDASE which could lead to symptoms like enlarged HEART and CARDIORESPIRATORY failure. Primarily affects heart, liver, and muscle.

6
Q

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.

A

Deficiency in DEBRANCHING enzyme and notable Glycogen structure feature of short OUTER CHAINS on fasting. Leads to enlarged Liver, moderate Hypoglycemia, and acidosis.

7
Q

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.

A

Deficiency in BRANCHING enzyme, which leads to a Glycogen structure containing fewer BRANCH points.

8
Q

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.

A

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.

9
Q

Type VI Glycogen storage disease is characterized by a deficiency in liver ______ ______. Symptoms are very similar to Type III, including enlarged ______, moderate ______, and mild ______.

A

Deficiency in liver GLYCOGEN PHOSPHORYLASE, leading to symptoms like enlarged LIVER, moderate HYPOGLYCEMIA, and mild ACIDOSIS.

10
Q

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.

A

Deficiency in liver GLYCOGEN PHOSPHORYLASE KINASE and is X-linked recessive.