Forbes disease is an inherited disorder due to the deficiency of amylo-1,6 - glucosidase that results in the accumulation of abnormal glycogen ( limit dextrin ) in liver and muscles . Forbes disease is a type of glycogen store disease that has various names such as glycogen memory disease case III , Cori ’s disease , amylo-1,6 - glucosidase deficiency , AGL insufficiency , glycogenosis eccentric III , limited dextrinosis , animal starch debrancher insufficiency and GSD - III . Forbes disease is a uncommon hereditary disease , which affects one in 100,000 multitude all around the world , 1 in 40,000 in the United States , but is common in the Inuit population of Canada , Faroese and North African Jews .
What Is The Cause of Forbes Disease?
The primary cause of animal starch storage disease character III or Forbes disease is the mutation of AGL gene located on chromosome 1p21 . It is a genetical disorder that is inherit as an autosomal recessionary trait . AGL cistron is responsible for the production of amylo-1,6 - glucosidase debranching enzyme , and the lack of this enzyme lead to incomplete break down of animal starch . This causes deficient production of glucose in the body , thus insufficient energy is produced . The incompletely go against down glycogen structure is acknowledge as limit point dextrin and is stash away in liver and muscle ( skeletal and cardiac ) tissues . The risk is the same for Male and females . The risk also increases when both the parent are closely relate than in unrelated parent .
What Is The Classification/Type of Forbes Disease?
Glycogen memory board disease type III or Forbes disease is classified into four subtypes . These are as follow :
GSD - IIIa subtype is the most common affecting most 85 % of individuals and bear upon both the liver and muscularity ( cardiac and/or skeletal ) .
GSD - IIIb affects about 15 % of all individuals and affects only the liver .
GSD - IIIc is super rare and is believed to be triggered by a loss of body process of glucosidase catalytic site of animal starch debranching enzyme . This affects both liver and muscles .
GSD - IIId is also considered highly rarefied and is suspected to be make by loss of activity of transferase catalytic site of the animal starch debranching enzyme . This disease move only liver of somebody , not the heftiness .
What Are The Symptoms of Forbes Disease?
by and large , the symptom of Forbes disease start at very early long time ( as early as one year of age ) as it is a genetic disorderliness . The most common symptoms of the disease are hepatomegaly ( enlarged liver in about 98 % cases ) , hypoglycaemia ( low origin carbohydrate in about 53 % cases ) , failure to grow ( in about 49 % case ) and recurrent illness and/or infection ( in about 17 % of all cases ) . There is also excrescence of abdomen due to hepatomegaly along with weak / soft brawn during childhood . Hepatomegaly , starts subsiding with long time as the child becomes pornographic ; however , it may get on toliver cirrhosis , liver failureand hepatic carcinoma .
Other symptoms of Forbes disease include slowed hypoglycemia , hyperlipidemia , fasting intolerance , frequent nosebleeds , difficulty fighting infections , cardiac hypertrophy . They also includeshort stature , delayedpuberty , retarded growth , bankruptcy to thrive , developing midface , deep placed optic , lower nose bridge , broad olfactory organ tip , upturned olfactory organ tip , bow shaped back talk , muscle weakness that progressively worsens with age , wasting of muscles of hands and foot along with myopathy ( both of which are discover late in life ) .
What Is The Diagnosis and Treatment For Forbes Disease?
The diagnosis of Forbes disease admit CBC , biopsy of muscle or liver andultrasound . It can further be confirmed by genetic testing for genetic mutation of AGL gene .
The basic treatment of Forbes disease is dietary qualifying , which includes gamy protein diet and avoid fasting to keep hypoglycaemia at alcove . Nocturnal nasogastric feeding tube may be involve for the bar of hypoglycaemia ( gloomy blood lettuce level ) during eternal sleep . Patients should take frequent meal and consume uncooked amylum supplements such as cornflour . The patient should also monitor one ’s blood glucose level and ketone level . The dietary modification is bed to fix and prevent center and/or muscular disease . In patients with severe hepatic cirrhosis , liver loser and hepatocellular carcinoma , liver transplantation is the only option .
Also Read :
