Storage Disorders

Dr Duncan Cole

At the end of this session you will be able to:

State the major categories of storage disorders

Describe the pathophysiology of major storage disorders
Describe the approach to investigating patients where a storage disorder is suspected
Outline the approach to monitoring storage disorders
Describe the treatment options available

Cases:

Each of the cases that follow exemplifies one of the storage diseases that will be covered in
the talk. Have a go at identifying which disorder each patient has, and answering the
questions that follow.

Case 1:
Mrs A, 40 years old, presents with tiredness and also discomfort in her abdomen. She has
intermittent aches in her back and hips.
On examination she has a moderate splenomegaly.
FBC: Haemoglobin 8.9 g/dl (11.5-15.5)
9
Platelets 95 x10 /L (150-400)
9
WBC 8.2 x10 /L (4.0-10.5)
Bone profile: normal
LFTs: bilirubin 30 umol/L (1-22), all else normal
U&E: normal
Blood film: no primitive cells seen.
Electrophoresis: normal

Which storage disorder does she have?

Which enzyme is deficient?

What diagnostic tests should be performed?

What are the treatment options?

Case 2:

Mr B, 19 years old, presents with episodic pain in his hands and feet since the age of 10 years. His
mother has been under cardiology follow-up for the past 4 years for mild hypertrophic
cardiomyopathy.

On examination he has a rash over his buttocks.

Urine dipstick: protein +

U&E: normal

Which storage disorder does he most likely have?

Which enzyme is deficient?

What diagnostic tests should be performed?

What are the treatment options?

Case 3:

Master C, 5 years old, presents with developmental delay and difficulty breathing.

On examination he has coarse facial features, a Mongolian blue spot, and hyperpigmented patches of
skin. There is no evidence of corneal clouding.

Which storage disorder does he most likely have?

What tests should be performed in order to reach a diagnosis?

What are the treatment options?

Case 4:

Master D, 18 months old, presents with a febrile illness. On examination he is noted to have
hepatomegaly.

Plasma glucose 1.9 mmol/L

Non-esterified fatty acids 1.53 mmol/L

3-hydroxybutyrate 2.71 mmol/L

Cortisol 593 nmol/L

Which class of storage disorder does he most likely have?

What other biochemical tests may be helpful?

What diagnostic tests should be performed?

What are the treatment options?

For more information:

I have gathered a range of web-based resources on inherited metabolic disease (that I have
reviewed) at the site below:

http://www.scoop.it/t/inherited-metabolic-disease

For those relevant to this lecture, click the search topic button (top right of the screen, funnel icon)
and select ACB course Wales 2014.