Glycogen Storage Disease Type 1 / Von Gierke disease : Clinical Biochemistry by Dr Prakash Mungli

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Glycogen Storage Disease Type 1/ Von Gierke disease : Clinical Biochemistry by Dr Prakash Mungli
von Gierke disease
-------------------------------
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Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it.
Von Gierke disease is also called Type I glycogen storage disease (GSD I).
Causes
------------
Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to low blood sugar.
Von Gierke disease is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.
Symptoms
------------------
These are symptoms of von Gierke disease:
Constant hunger and need to eat often
Easy bruising and nosebleeds
Fatigue
Irritability
Puffy cheeks, thin chest and limbs, and swollen belly
Exams and Tests
Your health care provider will perform a physical exam.
The exam may show signs of:
Delayed puberty
Enlarged liver
Gout
Inflammatory bowel disease
Liver tumors
Severe low blood sugar
Stunted growth or failure to grow
Children with this condition are usually diagnosed before age 1.
Tests that may be done include:
Biopsy of liver or kidney
Blood sugar test
Genetic testing
Lactic acid blood test
Triglyceride level
Uric acid blood test
If a person has this disease, test results will show low blood sugar and high levels of lactate (produced from lactic acid), blood fats (lipids), and uric acid.
Treatment
-----------------
The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.
In some children, a feeding tube is placed through their nose into the stomach throughout the night to provide sugars or uncooked cornstarch. The tube can be taken out each morning. Alternatively, a gastrostomy tube (G-tube) can be placed to deliver food directly to the stomach overnight.
A medicine to lower uric acid in the blood and decrease the risk for gout may be prescribed. Your provider may also prescribe medicines to treat kidney disease, high lipids, and to increase the cells that fight infection.
People with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these products.
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[@lalanto341]

You're a true master of biochemistry and medicine! Thank you doc! Not only I learned about the said disease but I also now understand how the metabolic pathway for glucose interplays with other pathway like protein and lipid metabolism! THANK YOU!!

[@rajavigneshrr9393]

Tq sir really superb 😊

[@anushas.sshruti7822]

Ur explaination🔥🔥 pronunciation words nice thank i

[@jeevansingh2364]

Wow 😳😳. What a lecturer. Please make all videos we are ready to purchase 🙏

[@doctorbhanuprakash]

We will , whole biochemistry will be released on MEDVIZZ app on december... shoot is completed and we are developing animations and illustrations ... one of the the best Biochem lectures thy will be

[@jeevansingh2364]

@@doctorbhanuprakash please don't compromise content, most of lectures of biochemistry don't cover in detail, they just mention. Sir has covered GSD 1 in detail which i loved very much. ❤️. NEXT exam will have clinical only. We want more detail cover on clinical topics like this. 🙏

[@doctorbhanuprakash]

​@@jeevansingh2364 yes that's what is our approach , Biochem app is going will be released by December

[@drawesome9317]

Sir aap toh awesome ho ❤️

[@balajibalaji-ph6yl]

Good information sir

[@vihangavinod118]

Thanks ❤️💪

[@doctorbhanuprakash]

You're welcome 😊

[@ngairangbamphalgunisingh1751]

Thank you sir for this video. Its so helpful.

[@medicalbiochemistry_]

Nice lecture

[@doctorbhanuprakash]

Thanks and welcome

[@odiamedicosvlog2974]

Best explanation

[@doctorbhanuprakash]

Thanks for liking

[@dolphi2306]

Thank you Sir for this fully detailed amazing lecture .

[@doctorbhanuprakash]

Thanks and welcome

[@camiloarenas1243]

You're awesome bro

[@fungohemmanuel3368]

Cool

[@krithikkamath3521]

Great explanation.sir make microbiology video also

[@doctorbhanuprakash]

Sure I will

[@prempandey4134]

Sir In type gsd1b earlier you told us there is defect in t1 translocase enzyme but later you told t2 transporter defect . Please clarify it sir!

[@DrMungli]

It is defect in T1 transporter.
T2 defect causes GSD 1c
T3 defect causes GSD 1d

[@prempandey4134]

@@DrMungli thanku sir

[@rizwanfarooq3126]

👌🏻

[@madhawalakshan4025]

Does Von Gierke’s disease can lead to hyperlipidemia Sir?

[@obaidumair8898]

Sir kya endocrinologist dr weight gain y loss krny m help krta h ?

[@DrMungli]

Yes they do

[@obaidumair8898]

Sir did endocrinologist dr help to gain or loss weight ?

[@kompellasaisrija4923]

Sir what is the exact cause of Hepatomegaly in vongirks disease

[@hidayatullahhassan9104]

Dear Sir I want to call you because my 4 years old daughter has GSD what should I do now

[@carlachavez9878]

Hi! How does de glucose-6-phosphate leave the endoplasmatic reticulum to go to the other pathways if it couldn't be turned to glucose due to the mutation In G6Pase (thus not being able to leave thru G6PT3)?

[@Fajilath-kz3jk]

03:45 main khala starts