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 E74.01

 (VON GIERKE DISEASE)

                                            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. Definitive diagnosis of Von Gierke Disease is by liver biopsy (examination of liver tissue), and assay of enzyme (glucose-6-phosphatase) activity. Gene testing, a recently available test that can detect mutations, provides a non-invasive technique for definitive diagnosis.

 

 SYMPTOMS

• Not growing fast enough.
• Not feeling comfortable in hot weather (heat intolerance)
• Bruising too easily.
• Low blood sugar (hypoglycemia)
• An enlarged liver.
• A swollen belly.
• Weak muscles (low muscle tone)
• Muscle pain and cramping during exercise.

TYPES OF GSD

• Type I or von Gierke disease. This is the most common form of GSD. People with type I don’t have the enzyme needed to turn glycogen into glucose in the liver. Glycogen builds up in the liver. Symptoms often appear in babies around 3 to 4 months old. They may include low blood sugar (hypoglycemia) and a swollen belly because of an enlarged liver.
• Type III, Cori disease, or Forbes disease. People with type III don’t have enough of an enzyme called the debranching enzyme, which helps break down glycogen. The glycogen can’t fully break down. It collects in the liver and in muscle tissues. Symptoms include a swollen belly, delayed growth, and weak muscles.
• Type IV or Andersen disease. People with type IV form abnormal glycogen. Experts think the abnormal glycogen triggers the body’s infection-fighting system (immune system). This creates scarring (cirrhosis) of the liver and other organs such as muscle and the heart.
• The following code(s) above E74.01 contain annotation back-references
   that may be applicable to E74.01:
  • E00-E89 
     Endocrine, nutritional and metabolic diseases
  • E70-E88 
     Metabolic disorders
  • E74 
     Other disorders of carbohydrate metabolism
• Approximate Synonyms
  • Deficiency of glucose-6-phosphatase
  • Deficiency of glucose-6-phosphate dehydrogenase
  • Glucose 6 phosphatase deficiency
  • Glycogen storage disease, type 1
  • Glycogen storage disease, type i
• Clinical Information
  • An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
  • An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.
  • Autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.
• ICD-10-CM E74.01 is grouped within Diagnostic Related Group(s) (MS-DRG v38.0):
  • 642 Inborn and other disorders of metabolism

  Convert E74.01 to ICD-9-CM

  Code History
  • 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
  • 2017 (effective 10/1/2016): No change
  • 2018 (effective 10/1/2017): No change
  • 2019 (effective 10/1/2018): No change
  • 2020 (effective 10/1/2019): No change
  • 2021 (effective 10/1/2020): No change
• Diagnosis Index entries containing back-references to E74.01:
  • Deficiency, deficient
    • glucose-6-phosphatase E74.01
  • Disease, diseased - see also Syndrome
    • glycogen storage E74.00
      • glucose-6-phosphatase deficiency E74.01
      • type I E74.01
      • Von Gierke's E74.01
    • Gierke's E74.01 (glycogenosis I)
    • van Creveld-von Gierke E74.01 (glycogenosis I)
    • von Gierke's E74.01 (glycogenosis I)
  • Gierke's disease E74.01 (glycogenosis I)
  • Van Creveld-von Gierke disease E74.01
  • Von Gierke's disease E74.01
• 
  

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