Article Text

  1. P A Munot1,
  2. A Arasu1,
  3. N Nathwani1,
  4. D Housley2,
  5. V Weckemann1
  1. 1Department of Paediatrics, Luton and Dunstable Hospital NHS Trust, Luton, Bedfordshire, UK
  2. 2Department of Biochemistry, Luton and Dunstable Hospital NHS Trust, Luton, Bedfordshire, UK


Background Inherited metabolic disorders (IMDs) presenting in the newborn period are well described. Substantial numbers of these respond well to treatment but may otherwise be fatal. A high index of suspicion is necessary for an early diagnosis to prevent morbidity and mortality.

Objectives To study the spectrum of IMDs presenting in the newborn period in a region serving an ethnically diverse British population.

Methods Babies with a confirmed diagnosis of IMD presenting in the neonatal period were identified from the laboratory database. A retrospective case-note review of the clinical presentation and diagnosis was undertaken.

Results 29 neonates (14 female, 15 male) were identified. The mean age at presentation was 9 days (1 day–30 days, median 5 days). Of these 20% were identified due to persistent metabolic acidosis, 17% due to seizures, 17% due to family history, 14% due to hypoglycemia and 10% on newborn screening. Others presented with abnormal urine odour or persistently raised lactate (7%). The range of diagnoses included disorders of carbohydrate metabolism 20%, fat 24%, vitamins 14%, amino acids/organic acids 17% and mitochondria 10%. The most common diagnosis was MCAD. Consanguinity was present in 55%. The mean age at diagnosis was 60 days. 23/29 (79%) were amenable to treatment.

Conclusions This review highlights that substantial numbers of IMDs present in the newborn period with the majority in the first week of life. A high index of suspicion is necessary for an early diagnosis. Seizures, hypoglycemia, persistent metabolic acidosis and consanguinity are important clues to diagnosis.

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