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Table 2 Prevalence of clinical symptoms and interventions in patients, organised by residual MCAD enzyme activity

From: Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

 

Residual MCAD enzyme activity

 

< 10%

≥ 10%

Neonatal presentation (%)

13% (7/53)

0%

Hypoglycaemia (%)

8% (4/51)

0%

Carnitine supplementation (%)

51% (27/51)

0%

Patients with hospital admissions (%)

82% (42/51)

55% (6/11)*

Hospital admissions (n)

116

14*

Hospital admissions per life year

0.64/life year

0.55/life year

  1. Data were processed as described in ‘Patients and Methods’. Hypoglycaemia was defined as blood glucose concentration <2.6 mmol/L or reported hypoglycaemia in medical charts. * p < 0.05.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172