Glycogen storage disease type I laboratory findings

Glycogen storage disease type I Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Glycogen storage disease type I from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Glycogen storage disease type I laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Glycogen storage disease type I laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Glycogen storage disease type I laboratory findings
CDC on Glycogen storage disease type I laboratory findings
Glycogen storage disease type I laboratory findings in the news
Blogs on Glycogen storage disease type I laboratory findings
Directions to Hospitals Treating Glycogen storage disease type I
Risk calculators and risk factors for Glycogen storage disease type I laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Laboratory findings consistent with the diagnosis of glycogen storage disease include hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia.

Laboratory Findings

• Laboratory findings consistent with the diagnosis of glycogen storage disease include:
  • Hypoglycemia: Fasting blood glucose concentration <60 mg/dL (normal range: 70-120 mg/dL)
  • Lactic acidosis: Blood lactate >2.5 mmol/L (normal range: 0.5-2.2 mmol/L)
  • Hyperuricemia: Blood uric acid >5.0 mg/dL (normal range: 2.0-5.0 mg/dL)
  • Hyperlipidemia:
    • Triglycerides >250 mg/dL (normal range: 150-200 mg/dL);

    Note: Hypertriglyceridemia causes the plasma to appear "milky."

    • Cholesterol >200 mg/dL (normal range: 100-200 mg/dL)

• Glucagon or epinephrine challenge test:
  • Glucagon or epinephrine is administered.
  • There is little or no increase in blood glucose concentration.
  • Serum lactate is increased significantly in both cases.