Von Gierke Disease (GSD I)MANAGEMENT

ENDOCRINE AND METABOLIC PRESENTATIONS · 12 SECTIONS

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403 items

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Cardiovascular Presentations71▾

Respiratory Presentations52▾

Neurological Presentations83▾

Gastrointestinal Presentations74▾

Genitourinary and Reproductive Presentations48▾

Infectious Disease Presentations148▾

Trauma Presentations89▾

Toxicologic Presentations80▾

Psychiatric Presentations26▾

Musculoskeletal and Rheumatologic Presentations96▾

Dermatology Presentations23▾

Environmental and Exposure Presentations27▾

Hematologic and Oncologic Presentations36▾

Pediatric-Specific Presentations19▾

Endocrine and Metabolic Presentations45▾

Acute Porphyria Adrenal crisis Adrenal Insufficiency (Addisonian Crisis)Dehydration Diabetes Insipidus Diabetic Ketoacidosis (DKA)Euglycemic DKA (SGLT2 inhibitor)Galactosemia GLP-1 receptor agonist complications (retained gastric contents, aspiration risk)Homocystinuria Hypercalcemia Hyperkalemia Hypermagnesemia Hypernatremia Hyperosmolar Hyperglycemic State (HHS)Hypertensive emergency Hypertensive urgency Hypocalcemia Hypoglycemia Hypogonadism (Acute Presentation)Hypokalemia Hypomagnesemia Hyponatremia Hypoparathyroidism (Tetany)Insulin pump failure Maple Syrup Urine Disease (Crisis)Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)Metabolic Acidosis Metabolic Alkalosis Myasthenia gravis crisis Myxedema coma Pellagra Pheochromocytoma (Crisis)Pituitary Apoplexy Pompe Disease (GSD II)Respiratory Acidosis Respiratory Alkalosis Scurvy SIADH Starvation Ketosis Tarui Disease (GSD VII)Thyroid storm Tyrosinemia Vitamin D Deficiency (Severe-Rickets)Von Gierke Disease (GSD I)

ENT and Maxillofacial Presentations27▾

Ophthalmologic Presentations19▾

Obstetric Presentations23▾

Systemic and Miscellaneous Presentations17▾

01Approach to the Critical Patient/attcp19

Immediate Stabilization

›Acute hypoglycemic crisis management

›IV dextrose 10% (D10W) in 0.45% NaCl at 1.5-2x maintenance rate

›Target blood glucose >= 3.9 mmol/l (70 mg/dL)

›Do NOT use glucagon — ineffective and worsens lactic acidosis

›Do NOT use lactated Ringer's — contraindicated due to lactate content

›Continuous glucose monitoring with point-of-care glucometry q30-60 min

›Electrolytes, lactate, acid-base status every 2-4 hours during stabilization

Critical Triggers

›Escalation criteria for resuscitation bay

›Blood glucose < 2.2 mmol/l (40 mg/dL) with seizures or altered consciousness

›Severe lactic acidosis: lactate >= 10 mmol/l with pH < 7.2

›Hemodynamic instability from metabolic decompensation

›Tube dislodgement or pump failure during overnight continuous feeding — can cause fatal hypoglycemia

›Sepsis in GSD Ib from neutropenia and neutrophil dysfunction

Consultation Triggers

›Specialist activation thresholds

›Metabolic genetics — all patients at diagnosis and acute decompensation

›Hepatology — hepatic adenoma rupture or hemorrhage

›Hematology — severe bleeding or neutropenia unresponsive to G-CSF

›Nephrology — eGFR < 60 mL/min/1.73 m2 or acute kidney injury

›Surgery — adenoma hemorrhage or suspected hepatocellular carcinoma (HCC)

02History/hx42

Chief Complaint

›Presenting symptoms in acute presentation

›Hypoglycemic symptoms: tremors, irritability, diaphoresis, pallor

›Seizures or altered mental status from hypoglycemia

›Tachypnea and respiratory distress (lactic acidosis may mimic pneumonia)

›Abdominal distension and pain

Symptom Timeline

›Onset and progression pattern

›Symptoms typically first appear at 3-4 months of age when feeding intervals lengthen

›Trigger: sleeping through the night extends fasting beyond tolerance

›Intercurrent illness disrupting feeding pattern is a common acute trigger

›Symptomatic hypoglycemia after only 2-4 hours of fasting

Associated Symptoms

›Systemic features by organ system

›Failure to thrive, growth retardation, short stature

›Epistaxis and easy bruising from platelet dysfunction

›Menorrhagia in adolescent females

›Diarrhea, nausea, and vomiting with intercurrent illness

›Recurrent infections, oral ulcers, and gingivitis (GSD Ib)

›Bone pain, fractures from osteoporosis

›Joint pain from gout or hyperuricemia

›Polyuria and hematuria from renal tubular dysfunction

Important Negatives

›Discriminating absent features

›No muscle weakness and no elevated CK (distinguishes from GSD III)

›Cognitive development typically normal unless cerebral damage from recurrent hypoglycemia

Past Medical History

›Relevant prior diagnoses

03Physical Exam/exam30

Vital Signs

›Hemodynamic and respiratory assessment

›Tachypnea — marker of lactic acidosis

›Hypotension if acutely decompensated

›Hypertension — long-term complication in older patients

›Hypothermia in severe hypoglycemia

General Appearance

›Characteristic dysmorphic features

›Short stature for age

›Doll-like facies with full, rounded cheeks (cushingoid appearance)

›Thin extremities with truncal adiposity

›Delayed pubertal development

Abdominal Exam

›Organomegaly assessment

›Massive hepatomegaly with protuberant abdomen (hallmark finding)

›Nephromegaly on deep palpation

›Splenomegaly possible in GSD Ib

›Tenderness in right upper quadrant if adenoma hemorrhage suspected

Skin Exam

›Cutaneous manifestations

›Eruptive xanthomas on extensor surfaces and buttocks (from hypertriglyceridemia)

›Petechiae and ecchymoses from bleeding diathesis

›Pallor from chronic illness or acute hypoglycemia

Neurologic Exam

›Mental status and focal findings

›Level of consciousness and response to stimulation

›Seizure activity or postictal state

›No myopathy on strength testing (distinguishes from GSD III)

04Differential Diagnosis/ddx24

Life-Threatening Mimics

›Diagnoses requiring immediate exclusion

›Sepsis with hypoglycemia — especially bacterial sepsis in any infant

›GSD Ib patients at elevated risk from neutropenia and neutrophil dysfunction

›Adrenal crisis — concurrent hypoglycemia and hemodynamic instability

›Acute pancreatitis from extreme hypertriglyceridemia (triglycerides > 11.3 mmol/l)

Other Glycogen Storage Diseases

›GSD subtypes to differentiate

›GSD Type III (Cori disease, ICD-10: E74.03)

›Hepatomegaly and hypoglycemia with ketosis and elevated CK

›Muscle involvement present (absent in GSD I)

›Lactate elevated postprandially, low after fasting (opposite to GSD I)

›GSD Types VI and IX

›Milder hepatic glycogenoses with ketotic hypoglycemia

›Better fasting tolerance than GSD I

›GSD Type III vs GSD I — CK is elevated in III, normal in I

Fatty Acid Oxidation Disorders

›Metabolic mimics

›Hypoketotic hypoglycemia with hepatomegaly

›Included in newborn screening in most jurisdictions

›Acylcarnitine profile abnormal

Other Metabolic Disorders

›Additional differential considerations

›Galactosemia — reducing substances in urine, included in newborn screening

›Growth hormone deficiency — mild hepatomegaly with hypoglycemia, GSD I patients may be misdiagnosed

›Familial hypertriglyceridemia — extreme hypertriglyceridemia without hepatomegaly or hypoglycemia

›Niemann-Pick disease and Gaucher disease — hepatomegaly from storage without hypoglycemia

›Neuroblastoma with hepatic metastases (Pepper syndrome) — hepatomegaly in infants ruled out by ultrasound

05Laboratory Tests/lt32

Critical Sample During Hypoglycemia

›Simultaneous metabolic panel at time of hypoglycemia

›Blood glucose — typically < 2.2 mmol/l (< 40 mg/dL) after 3-4 hour fast

›Lactate — often >= 10 mmol/l (highly elevated, distinguishes from GSD III)

›Beta-hydroxybutyrate — only mildly elevated relative to free fatty acids (hypoketotic)

›Hypoketotic pattern distinguishes from GSD III and fatty acid oxidation disorders

›Uric acid — markedly elevated (purine overproduction from increased AMP catabolism)

›Triglycerides — markedly elevated, serum may appear milky (lipemic)

›Cholesterol — elevated LDL, low HDL

Metabolic Panel

›Standard metabolic assessment

›Comprehensive metabolic panel: sodium, potassium, bicarbonate, BUN, creatinine, AST, ALT, albumin

›Anion gap elevated in lactic acidosis: anion gap = Na - (Cl + HCO3)

›Bicarbonate low in metabolic acidosis

›Arterial or venous blood gas for pH and base excess

›Phosphorus and calcium (often low)

Hematologic Assessment

›Blood count and coagulation

›Complete blood count with differential

›Neutropenia suggests GSD Ib (absolute neutrophil count < 1.5 x 10^9/L)

›Thrombocytopenia may contribute to bleeding

›PT and aPTT for coagulation status

›Platelet function assay preoperatively

›Bleeding time (prolonged due to platelet dysfunction)

Confirmatory Genetic Testing

›Molecular diagnosis

›G6PC gene sequencing for GSD Ia (chromosome 17q21) — now preferred over liver biopsy

›SLC37A4 gene sequencing for GSD Ib (chromosome 11q23)

06Diagnostic Tests/dt36

Scoring Systems

›Metabolic control assessment tools

›No validated EM-specific scoring system for GSD I

›Severity stratification by metabolic control: well-controlled vs poorly controlled

›Well-controlled: blood glucose >= 3.9 mmol/l, lactate < 5 mmol/l, near-normal growth

›Poorly controlled: recurrent hypoglycemia, elevated lactate, growth failure, progressive complications

›GFR classification for nephropathy staging

›Hyperfiltration stage: eGFR > 140 mL/min/1.73 m2 (early renal involvement)

›Microalbuminuria stage: albumin-creatinine ratio > 3 mg/mmol

›Overt nephropathy: progressive CKD with declining eGFR

MRI

›Liver and brain MRI indications

›Liver MRI with contrast every 6-12 months starting at age 16 or earlier if adenomas present

›Monitor hepatic adenomas for malignant transformation to HCC

›Preferred over CT for repeated surveillance to reduce radiation exposure

›Adenoma features: T2 hyperintense, T1 variable, enhancement pattern guides intervention

›Brain MRI if concern for cerebral damage from recurrent severe hypoglycemia

›Findings: occipital horn dilation, subcortical white matter changes

›CT imaging indications

›Liver CT with contrast — alternative to MRI for adenoma surveillance

›CT or MRI every 6-12 months from age 16 or earlier if adenomas identified

›Adenoma > 5 cm or enlarging: higher risk of hemorrhage and malignant transformation

›Abdominal CT for acute abdominal pain — hepatic adenoma hemorrhage or rupture

›Contrast-enhanced CT preferred for characterization

›CT-guided biopsy of hepatic lesions suspicious for HCC

›Bone CT if complex fracture assessment needed (osteoporosis)

07Disposition/dispo25

Admission Criteria

›Indications for inpatient management

›Inability to maintain oral or nasogastric feedings due to vomiting or severe illness

›Severe hypoglycemia unresponsive to oral glucose correction

›Lactic acidosis with pH < 7.2 or lactate > 10 mmol/l

›Acute pancreatitis from hypertriglyceridemia

›Sepsis or severe infection in GSD Ib (neutropenia risk)

›Hepatic adenoma hemorrhage or rupture

›Tube dislodgement during overnight feeding with inability to promptly replace

Perioperative Admission

›Preoperative stabilization criteria

›Admit the day before any elective surgery for IV dextrose stabilization

›Target blood glucose >= 3.9 mmol/l preoperatively and maintain intraoperatively

›Cardiac arrest has been reported during surgery from progressive metabolic acidosis

›Platelet function and bleeding time assessment before any procedure

ICU Criteria

›High acuity escalation

›Cardiac dysrhythmia or hemodynamic instability from severe metabolic acidosis

›Seizures refractory to glucose correction

›Massive hepatic adenoma hemorrhage requiring intervention

Discharge Criteria

›Criteria for safe discharge

›Tolerating oral feeds with stable blood glucose >= 3.9 mmol/l

›Lactic acidosis resolved with lactate < 5 mmol/l

›Caregivers demonstrate competence with feeding regimen and emergency protocols

›Metabolic genetics follow-up arranged within 1-2 weeks

Follow-Up

›Outpatient surveillance schedule

08Treatment/t71

Acute Hypoglycemia Management

›IV dextrose protocol

›D10W in 0.45% NaCl at 1.5-2x maintenance rate

›Glucose infusion rate: 8-10 mg/kg/min in infants; 6-8 mg/kg/min in older children; 3-7 mg/kg/min in adults

›Target blood glucose >= 3.9 mmol/l (70 mg/dL)

›Titrate dextrose concentration and rate to maintain glucose in target range

›Contraindicated interventions

›Glucagon — ineffective due to glycogenolysis block; worsens lactic acidosis

›Lactated Ringer's — contraindicated; contains lactate

›Metformin — contraindicated; increases lactic acidosis risk

Dietary Therapy

›Uncooked cornstarch (UCCS) therapy

›Argo brand UCCS — mainstay of chronic management

›Dose calculated based on hepatic glucose production rate

›Given between meals and at bedtime to extend fasting tolerance

›Not suitable in infants < 12 months due to amylase immaturity

›Glycosade (extended-release waxy maize cornstarch)

›Allows longer fasting intervals and fewer daily doses

›Particularly useful for overnight fasting management

›Macronutrient targets: 60-70% complex carbohydrates, 10-15% protein, < 30% fat

›Restricted sugars

›Sucrose, fructose, galactose, lactose, sorbitol, honey, maple syrup all prohibited

›Simple sugars < 5 g/meal and < 2 g/snack

›Meals every 3-4 hours of complex carbohydrates (whole grains, legumes, rice)

Overnight Feeding

›Continuous nasogastric or gastrostomy tube feeding

›Indicated in infants and young children unable to take cornstarch

›Glucose infusion rate: 8-10 mg/kg/min in infants

›Alarm systems mandatory — tube dislodgement can cause fatal hypoglycemia

›Continuous glucose monitor (CGM) for overnight hypoglycemia detection

Hyperuricemia Treatment

›Urate-lowering therapy

›Allopurinol for hyperuricemia and gout prevention

›Reduces purine overproduction from increased AMP catabolism

›Febuxostat as alternative to allopurinol

›Dietary purines restricted

Renal Protection

›ACE inhibitor therapy

›Captopril or lisinopril for microalbuminuria and hyperfiltration

›Tight metabolic control plus ACE inhibitor therapy improves GSD I nephropathy

›Start when microalbuminuria detected (albumin-creatinine ratio > 3 mg/mmol)

›NSAIDs contraindicated — nephrotoxic especially with reduced GFR or bleeding diathesis

›Loop diuretics avoided — risk of hypercalciuria

Lipid Management

›Dyslipidemia treatment

›Statins for persistent hypercholesterolemia

›Fibrates for severe hypertriglyceridemia

›Dietary restriction of sucrose and fructose most effective primary intervention

GSD Ib Neutropenia Treatment

›SGLT2 inhibitor therapy

›Empagliflozin — emerging first-line therapy for GSD Ib neutropenia

›Starting dose approximately 0.2 mg/kg/day; titrate carefully due to hypoglycemia risk

›Mechanism: reduces 1,5-anhydroglucitol-6-phosphate accumulation in neutrophils

›Improves neutrophil function and allows G-CSF reduction or discontinuation in most patients

›Nationwide real-world study supports shift to empagliflozin as first-line therapy

›G-CSF (filgrastim) for neutropenia if empagliflozin insufficient

›CBC with differential every 3 months if on G-CSF

›1,5-anhydroglucitol levels as biomarker for monitoring empagliflozin efficacy

Bleeding Diathesis

›Hemostatic management

›DDAVP (desmopressin) for acute bleeding and perioperative hemostasis

›Antifibrinolytics (tranexamic acid) for surgical or menorrhagia management

›Combined oral contraceptives with estrogen avoided — risk of worsening hepatic adenomas

Micronutrient Supplementation

›Nutritional supplementation

›Calcium and vitamin D for bone health (dietary restriction limits intake)

›Iron supplementation for deficiency from restricted diet

›Citrate supplementation for hypocitraturia and nephrocalcinosis prevention

›Multivitamin supplementation essential

Surgical and Interventional

›Hepatic adenoma management

›Surveillance with imaging (ultrasound to age 16, then CT or MRI)

›Percutaneous ethanol injection or radiofrequency ablation for selected adenomas

›Surgical resection for adenomas > 5 cm or with hemorrhage risk

›Liver transplantation for refractory metabolic control or HCC

›Corrects hypoglycemia but renal disease may progress post-transplant

›Kidney transplantation for ESRD; combined liver-kidney transplant when indicated

Emerging Therapy

›Gene therapy

›DTX401 (AAV8 gene therapy): Phase 1/2 trial showed 68% reduction in daily cornstarch intake

›46% improvement in fasting tolerance at 52 weeks

›Currently investigational for GSD Ia adults

09Special Populations/sp39

Pregnancy

›Maternal GSD I management

›High-risk pregnancy requiring metabolic genetics and maternal-fetal medicine co-management

›Increased frequency of blood glucose monitoring during pregnancy

›Dietary adjustments as pregnancy increases glucose demands

›Cornstarch dosing may require adjustment as gestation advances

›Contraindicated medications in pregnancy

›ACE inhibitors contraindicated in second and third trimester

›Estrogen-containing oral contraceptives contraindicated — worsen hepatic adenomas

›Allopurinol — limited safety data; discontinue if possible preconception

›Fetal considerations

›25% risk of affected offspring if both parents are carriers

›Prenatal testing available by molecular genetic analysis

Geriatric

›Older adult considerations

›Long-term complications more prevalent in older patients

›Progressive CKD and ESRD risk with decades of disease

›Hepatocellular carcinoma risk from longstanding adenomas

›Pulmonary hypertension as recognized long-term complication

›Gout and osteoporosis with higher fracture risk

›Medication adjustments

›ACE inhibitor dosing adjusted for eGFR

›Cornstarch dosing adjusted for body weight and metabolic needs

›Renal-dosed medications important with CKD

›Atypical presentations: rare cases diagnosed in adulthood with adenomas and hyperuricemia

Pediatrics

›Infant and pediatric-specific management

›Onset typically at 3-4 months of age when feeding intervals increase

10Background/b45

Epidemiology

›Incidence and prevalence data

›Incidence approximately 1 in 100,000 live births (pan-ethnic)

›Higher prevalence in Ashkenazi Jewish populations: approximately 1 in 20,000

›Ethnic-specific mutations account for approximately 90% of alleles in certain ethnic groups

›Subtype distribution

›GSD Ia: approximately 80% of GSD I cases (G6PC gene, chromosome 17q21)

›GSD Ib: approximately 20% of GSD I cases (SLC37A4 gene, chromosome 11q23)

›Inheritance: autosomal recessive; 25% recurrence risk per pregnancy

›Prognosis: with optimal dietary management and surveillance, near-normal growth and life span achievable

›Long-term hepatic and renal complications remain possible even with good control

›Poor metabolic control is strongest risk factor for long-term complications

Pathophysiology

›Molecular and metabolic mechanisms

›GSD Ia: deficiency of glucose-6-phosphatase catalytic subunit (G6Pase-alpha)

›Impairs both glycogenolysis and gluconeogenesis — unable to release free glucose from G6P

›Glycogen and fat accumulate in liver, kidney, and intestinal mucosa

›GSD Ib: deficiency of glucose-6-phosphate translocase (G6PT)

›Cannot transport G6P into the ER lumen for G6Pase to act on it

›Same metabolic consequences as Ia plus neutrophil dysfunction

›1,5-anhydroglucitol-6-phosphate accumulates in neutrophils — toxic mechanism

›Metabolic cascade from G6P accumulation

›Excess G6P diverted to glycolysis — excess pyruvate converted to lactate (lactic acidosis)

›Excess G6P diverted to pentose phosphate pathway — excess uric acid (hyperuricemia)

›Excess G6P diverted to lipid synthesis — hypertriglyceridemia and hypercholesterolemia

›Organ-specific consequences

›Liver: glycogen accumulation causing hepatomegaly; fat deposition; adenoma formation

›Kidney: glycogen and fat accumulation causing nephromegaly; hyperfiltration progressing to CKD

11Patient Discharge Instructions/pdi25

copy discharge instructions

›Discharge instructions for Von Gierke Disease (Glycogen Storage Disease Type I)

›Your child or you have a condition called Von Gierke Disease (GSD Type I). The body cannot release sugar from the liver, so blood sugar can drop dangerously low if meals are skipped or delayed.

›Feeding schedule: Never go more than 3-4 hours without eating complex carbohydrates (rice, whole grains, legumes). In infants, tube feeding must run continuously at night.

›Cornstarch: Take uncooked cornstarch exactly as instructed by your metabolic team. Do not skip doses, especially the bedtime dose.

›Foods to strictly avoid

›Table sugar (sucrose), fruit sugar (fructose), milk sugar (lactose), and galactose

›Honey, maple syrup, fruit juice, and high-fructose corn syrup

›Sorbitol (found in sugar-free products)

›Medications to never take

›Glucagon injections are ineffective for this condition and will make things worse

›Do not take metformin or lactated Ringer's intravenous fluids

›Avoid ibuprofen (Advil, Motrin) — use acetaminophen instead for pain and fever

›Avoid estrogen-containing birth control pills without specialist approval

›Emergency protocol: Carry a medical alert card or letter at all times describing the diagnosis, glucose requirements, and medications to avoid.

›Blood glucose monitoring: Monitor blood glucose as directed. Target is always above 3.9 mmol/l (70 mg/dL).

Return to Emergency Department

›Immediate return to ER red flags

›Unable to eat or drink for more than 2-3 hours for any reason

›Vomiting or diarrhea preventing oral intake or cornstarch administration

›Blood glucose below 3.9 mmol/l (70 mg/dL) that does not improve with oral glucose

›Seizure, loss of consciousness, or unresponsiveness

›Fast breathing or breathing difficulty (can signal dangerous acidosis)

›Tube dislodgement or feeding pump failure during overnight feeding — go to ER immediately

›Fever with low white blood cell count (GSD Ib) — risk of serious infection

›Severe abdominal pain — could indicate liver hemorrhage or pancreatitis

›Any planned surgery or procedure — must be discussed with metabolic team first

12References/r15

Guidelines and Key Sources

›Primary guidelines and landmark publications

›Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and Management of Glycogen Storage Disease Type I: A Practice Guideline of the American College of Medical Genetics and Genomics. Genetics in Medicine. 2014. PMID: linkinghub.elsevier.com/retrieve/pii/S1098-3600(21)02651-4

›Froissart R, Piraud M, Boudjemline AM, et al. Glucose-6-Phosphatase Deficiency. Orphanet Journal of Rare Diseases. 2011. PMID: 21599942

›Bali DS, El-Gharbawy A, Austin S, et al. Glycogen Storage Disease Type I. GeneReviews. 2021. ncbi.nlm.nih.gov/books/n/gene/gsd1/

›Hannah WB, Derks TGJ, Drumm ML, et al. Glycogen Storage Diseases. Nature Reviews Disease Primers. 2023. PMID: 37679331

Clinical Studies

›Supporting evidence

›Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating Neutropenia and Neutrophil Dysfunction in GSD Ib With an SGLT2 Inhibitor. Blood. 2020. PMID: 32294159

›Grünert SC, Derks TGJ, Adrian K, et al. Efficacy and Safety of Empagliflozin in GSD Ib: Data From an International Questionnaire. Genetics in Medicine. 2022. PMID: 35503103

›Ucar SK, Mungan NO, Gokcay GF, et al. Shifting Towards Empagliflozin First-Line Therapy in GSD Ib: A Nationwide Real-World Study. Journal of Inherited Metabolic Disease. 2026. PMID: 42070995

›Iwasyk E, Jin R, Tuzzolino F, et al. Efficacy and Safety of Empagliflozin in Paediatric GSD Ib: Systematic Review and Meta-Analysis. British Journal of Clinical Pharmacology. 2025. PMID: 41024628

›Halligan RK, Dalton RN, Turner C, Lewis KA, Mundy HR. Understanding the Role of SGLT2 Inhibitors in GSD Ib. Orphanet Journal of Rare Diseases. 2022. PMID: 35549996

›Okechuku GO, Shoemaker LR, Dambska M, et al. Tight Metabolic Control Plus ACE Inhibitor Therapy Improves GSD I Nephropathy. Journal of Inherited Metabolic Disease. 2017. PMID: 28612263

›Weinstein DA, Jackson RJ, Brennan EA, et al. Short and Long-Term Acceptability and Efficacy of Extended-Release Cornstarch. Orphanet Journal of Rare Diseases. 2024. PMID: 38982397

›Weinstein DA, Derks TG, Rodriguez-Buritica DF, et al. Safety and Efficacy of DTX401 Gene Therapy in GSDIa. Journal of Inherited Metabolic Disease. 2025. PMID: 40064185

›Ru JH, Ryu JS, Kang Y, Yang S. Continuous Glucose Monitoring-Driven Personalization of Cornstarch Therapy in GSD. Yonsei Medical Journal. 2026. PMID: 42044980

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Reviewed by SymptomDx Medical Team · Last reviewed August 18, 2026

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