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Table 2 The plasma concentrations of branched-chain amino acids in a case of ECHS1 deficiency treated with a valine- and fat-restricted diet

From: Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

Amino acid (µmol/L)

Diagnosis

1.5 y after diagnosis

3 y after diagnosis

Range of normality

Valine

158

95

104

219 ± 47

Isoleucine

39

40

36

58 ± 15

Leucine

88

92

93

115 ± 26

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172