TUBEROUS SCLEROSIS, METABOLIC CONDITIONS & NEONATAL BLOOD SPOT SCREENING

TUBEROUS SCLEROSIS

• Autosomal dominant
• Angiofibroma: red-brown facial papules (age 5-10)
• Epilepsy
• Developmental delay
• Hypopigmented skin patches (ash leaf spots)

METABOLIC CONDITIONS

• Tay-Sachs disease
• HEXA gene mutation (chromosome 15)
• 1 in 25 Ashkenazi Jewish carrier rate
• Glycogen storage diseases
• Abnormal glycogen tissue deposition
• Autosomal recessive except type 9 (X-linked)
• Types 1,3,4,6: liver involvement (hepatomegaly, hypoglycaemia, metabolic acidosis)
• Types 2,5,7: muscle involvement (weakness, lethargy, poor feeding, heart failure)
• Management: small carbohydrate meals, high protein, allopurinol, limited anaerobic exercise

NEONATAL BLOOD SPOT SCREENING

Performed age 5-8 days, results by 6 weeks Screens for:

• Sickle cell disease (1:2000)
• Cystic fibrosis (1:2500)
• Congenital hypothyroidism (1:3000)
• More common in females
• Detects low thyroxine
• Lifelong replacement needed