Makindo Medical Notes

🦶 Blood is taken on day 5–9 after birth from a small pinprick on the heel and dried onto a special absorbent card (“Guthrie card”). This newborn bloodspot (NBS) screening programme enables early identification, referral, and treatment of babies with nine rare but serious conditions. ✅ Early diagnosis prevents severe disability, metabolic crises, or even death.

📋 Conditions Screened in the UK

• 🧠 Congenital Hypothyroidism → via TSH. 🚫 Without treatment → severe learning disability & growth failure. 💊 Treated with thyroxine replacement.
• 🫁 Cystic Fibrosis → immunoreactive trypsin. 🧪 Raised if pancreatic ducts are obstructed. 🩺 Early enzyme replacement & chest physiotherapy improve survival.
• 🥛 Phenylketonuria (PKU) → high phenylalanine. ⚠️ Causes irreversible brain damage if untreated. 🥦 Managed with a strict low-phenylalanine diet.
• 🩸 Sickle Cell Disease & Thalassaemia → Hb electrophoresis. 💉 Allows early prophylaxis (penicillin, vaccines) & family support.
• ⚡ MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency) → excess medium chain fatty acids. 🛑 Risk of life-threatening hypoglycaemia if fasting. 🍞 Managed by avoiding fasting and regular feeding.
• 🍁 Maple Syrup Urine Disease (MSUD) → ↑ leucine, isoleucine, valine. 👃 Urine smells sweet (“maple syrup”). 🍽️ Treated with protein-restricted diet + metabolic support.
• 👣 Isovaleric Acidaemia (IVA) → ↑ isovalerylcarnitine. 🦶 “Sweaty feet” odour. 🥛 Managed with dietary restriction + carnitine supplementation.
• 🧬 Glutaric Aciduria Type 1 (GA1) → ↑ glutarylcarnitine. ⚡ Prevents acute encephalopathy & disability with dietary management.
• 👁️ Homocystinuria (HCU) → ↑ methionine. 🪞 Can cause lens dislocation, vascular disease & learning difficulties. 💊 Managed with vitamins (B6, B12, folate), betaine & special diet.

💡 Key Points

• ⏱️ Quick, minimally invasive, and highly cost-effective.
• 📞 Parents are informed rapidly if results are abnormal → urgent referral.
• ⚠️ Not 100% sensitive → remain vigilant for clinical symptoms.
• 🌟 Early treatment dramatically improves outcomes and quality of life.