Friedreich Ataxia in Classical Galactosaemia

Area of Science:

• Genetics
• Neurology
• Metabolic Disorders

Background:

• Movement disorders like ataxia are known complications of classical galactosaemia, even with dietary compliance.
• Classical galactosaemia and Friedreich ataxia (FRDA) are both autosomal recessive disorders.
• Both conditions are observed with higher frequency in the Irish Traveller population.

Purpose of the Study:

• To report the coexistence of classical galactosaemia and FRDA in nine children from Irish Traveller families.
• To investigate potential genetic linkage between these two disorders in this specific population subgroup.
• To emphasize the importance of considering FRDA in galactosaemia patients presenting with neurological or cardiac issues.

Main Methods:

• Genetic analysis of the GALT gene for galactosaemia diagnosis (homozygous Q188R mutation identified).
• Genetic analysis of the FXN gene for FRDA diagnosis (common pathogenic GAA expansion identified).
• Clinical assessment of neurological and cardiac status in affected children.

Main Results:

• Nine children from seven Irish Traveller families were identified with both classical galactosaemia and FRDA.
• Eight patients presented with progressive ataxia between ages 5-13.
• One patient presented with dilated cardiomyopathy and heart failure at age 7, with normal neurological examination at follow-up.

Conclusions:

• Classical galactosaemia and FRDA show apparent linkage disequilibrium in this Irish Traveller subgroup.
• Neurological symptoms in galactosaemia patients can mask or be confused with FRDA.
• Early consideration of FRDA is crucial for Irish Traveller children diagnosed with galactosaemia who develop ataxia or cardiomyopathy.