Overview

Newborn Blood Test Screen → congenital hypothyroidism, cystic fibrosis, sickle cell disease, 6 inborn errors in metabolism.

• PKU → deficiency of phenylalanine hydroxylase (PAH). Causes blond hair, blue eyes, microcephaly and musty body odour.
• MCADD → deficiency in MCAD. Hypoglycaemia + hypoketonuria.
• Glutaric Aciduria T1 →
• Isovaleric Acidaemia → hyperammonaemia, cheesy/sweaty smell.
• Homocystinuria →
• Maple Syrup Urine Disease → sweet-smelling urine.

Making Diagnosis

Clinical Features

Investigations

Management Plan

Complications →

Prognosis →