GSD Type 1
Sub-Types 1a and 1b
Common names Von Gierke disease
Deficient enzyme Glucose-6-phosphatase

G6P

With GSD type Ia, your body will struggle to release energy from any of the major sources.

CARBOHYDRATE
You cannot release glucose into the blood stream.

PROTEIN
Your use of protein as an energy source is also affected.

FAT
With G6P building up to high levels, the use of fat as an energy source by your body will be blocked.

ALTERNATIVE ENERGY SOURCES

With your body struggling to generate energy from the usual sources, it starts to make energy in other ways. It can use G6P to make other energy sources such as lactate and urate. Both urate and lactate can be found in people without GSD; for example, lactate levels will often rise after intensive exercise. In GSD, however, lactate and urate may often be high and this needs to be addressed. Over time, high levels of urate can be damaging to the kidneys. High lactate levels indicate that GSD control could be better.

MANAGEMENT

Good dietary management aims to reduce the risk of your blood glucose levels going too low. This means that your body will then not need to generate lactate or urate. A medication called Allopurinol can be used alongside dietary management to help reduce urate levels.

FEATURES UNIQUE TO GSD TYPE 1b

If you have GSD type Ib, you will likely have additional symptoms that individuals with GSD type Ia do not have. This is often linked to neutropenia. Individuals with GSD type Ib often have neutropenia. Neutropenia means ‘low levels of white blood cells’. White blood cells are important for the immune system.

All of this can lead to gut and intestinal symptoms in GSD type Ib such as mouth ulcers and sometimes inflammation (pain, swelling) of the bowel.

To help alleviate some of the symptoms of neutropenia, individuals with GSD type Ib should;

  1. Maintain good oral hygiene.
  2. Visit the dentist regularly.
  3. Take the vitamin and mineral supplements advised by the dietitian.
  4. Contact the specialist metabolic team when unwell. Additional medications may be required.
WHAT ARE GLYCOGEN STORAGE DISEASES