By Thoyyiba

CASE PRESENTATION
Case :
• A one-year-old female child presented to the hospital
with progressive abdominal distention , vomiting and
lethargy for 2 months . She has no history of seizure
and recurrent infections. She had slightly delayed
development and there was a history of death of a
cousin during infancy due to liver disease . On
physical examination the child showed rounded doll’s
face , fatty cheeks , and a protuberant
abdomen ,massive and firm hepatomegaly and kidneys
were palpable , spleen not palpable .
 Low blood glucose level (hypoglycemia )

High lactic acid level

Hyperlipidemia

Laboratory
Hyperuricemia

Mild elevation in liver enzymes

reports : ABG analysis :high anion gap metabolic acidosis

Urine : benedict test : Negative

Liver biopsy : hepatocytes contained greater than normal amount of glycogen

DISEASE : Von Gierke disease [Type 1a ]

Von Gierke Disease (GSD )

This impairment disrupts the liver's

GSD type 1 is an inherited disease
ability to break down
that results in the liver being
stored glycogen that is necessary
unable to properly break down
to maintain adequate blood sugar
stored glycogen
level
EPIDEMIOLOGY : approximately 1
in 100,000 births . This condition
affects males and females in equal
numbers in any given population
group. The disease is more
common in people of Ashkenazi
Jews, Mexican, Chinese, and
Japanese descent
ETIOLOGY : Caused due to
deficiency Glucose-6-
phosphatase ,due to mutation in
G6PC gene (type 1a) or Glucose-6-
phosphate translocase , (SCL37A4
gene)(type 1b)
Pathophysiology
• Glycogen accumulation is
due to defect of the liver or
kidney enzyme glucose-6-
phosphatase(G6PASE)

Impairs the conversion of

glucose-6-phosphate glucose
(fasting hypoglycemia)
Pathophysiology :
• Cori cycle defective lactic acidosis
• Fatty acids and cholesterol hyperlipidemia
• Accumulation of glycogen liver and kidney hepatomegaly and renomegaly
• G6P are metabolized via PPP purines uric acid hyperuricemia
Clinical manifestations
• Cutaneous xanthoma
• Apple cheeks with thin extremities
• Fasting hypoglycemia
• Hepatomegaly and Renomegaly (protuberant abdomen )
• Gouty arthritis
• Hyperuricemia
• Hyperventilation
Diagnosis :
• Several different problems may lead to the diagnosis, usually by two years of age:
• Liver biopsy
• Molecular genetic testing for the G6PC gene
Complications :
• Puberty is often delayed
• Gout
• Sever brain damage
• Kidney failure etc…
Prognosis :
• Kidney diseases, high blood pressure and liver cancer increase mortality in adolescents and young
adults.
Treatment
Feeding food rich in
glucose or starch
No specific treatment
Periodic cornstarch
feeding

Avoid intake of
Anti hypertensive carbohydrates
drugs (galactose and
fructose )

Patients should avoid

Limited intake of lipids
low blood sugar level
Thanks for your
patience listening