Test

Amino Acid Disorders

• Phenylketonuria (PKU)
• Tyrosinaemia Type 1&2 (TYRO)
• Maple Syrup Urine Disease (MSUD)
• Homocystinuria (HCU)
• Test

Urea Cycle Disorders

• Ornithine Transcarbamylase Deficiency (OTC)
• Citrullinaemia
• Argininosuccinic Acidaemia (ASA)
• Arginase Deficiency (ARG)

Organic Acidaemias

• Glutaric Acidaemia Type 1&2 (GA1) & (GA2)
• Methylmalonic Aciduria (MMA)
• Propionic Acidaemia (PA)
• 3-Methylcrotonyl CoA Carboxylase Deficiency (3MCC)
• Isovaleric Aciduria (IVA)