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Table 1 Patients’ data at diagnosis

From: Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy

Patient

Age at diagnosis

Disease

Variants (DNA)

Variants (protein)

Gene

C26:0 μmol/L (nv 0.25–0.65)

C26:0/C22:0 (nv 0.01–0.03)

1

2 months

ZSD

c.2097dupT

c.2528G > A

p.Ile700Tyrfs*42

p.Gly843Asp

PEX1

7.67

0.31

2

1 month

ZSD

c.2097dupT

c.2528G > A

p.Ile700Tyrfs*42

p.Gly843Asp

PEX1

3.76

0.13

3

5 years

ZSD

c.292C > T

c.419_427del

p.Arg98Trp

p.Val140_Gly142del

PEX26

2.67

0.08

4

9 years

X-ALD

c.526_528del

p.[Ser176del]

ABCD1

4.3

0.10

5

3 years

X-ALD

c.526_528del

p.[Ser176del]

ABCD1

5.33

0.18

6

14 years

X-ALD

c.1679C > T

p.[Pro560Leu]

ABCD1

3.29

0.08

7

10 years

X-ALD

c.1679C > T

p.[Pro560Leu]

ABCD1

2.4

0.06

8

3 years

X-ALD

c.[652C > T;

664G > T]

p.[Pro218Ser;

Val222Leu]

ABCD1

1.17

0.10

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172