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Table 6 Eighteen symptomatic SCAD-deficient patients included in the present study with data concerning ethnicity, biochemical findings, clinical phenotype and ACADS genotype

From: An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Patient No.

Ethnicity

Biochemical findings

Phenotype

ACADS genotype

C4a

C4/C2a

C4/C3a

C4/C8a

EMAb

1

R

1.53

0.21

1.35

40.38

N/A

microcephaly, DD/ID, marked hypotonus, horizontal nystagmus

c.310_312delGAG/c.310_312delGAG

9

R

N/A

N/A

N/A

N/A

634

DD/ID, apnoic pause, bleeding into the adrenal glands in the neonatal age, hypoglycaemia

10

R

1.44

0.05

0.81

30.64

363

central hypotonus with acral hypertonus, laryngomalatia

12

R

1.07

0.07

1.07

40.75

146

epilepsy, hypotonus, irritability, cerebral palsy, pectus carinatum, kyphoscoliosis

14

R

0.97

0.08

0.61

59.6

1070

recurrent sepsis, MAC, hepatosplenomegaly, severe hepatopathy along with gastroenteritis

15

C

2.77

0.11

3.26

60.23

169

mild MAC in neonatal age, at age 2 yo - DD/ID, hypotonus, at age 3 yo – without DD/ID

17

R

N/A

N/A

N/A

N/A

329

severe DD/ID, parents consanguinity, MAC, brother – DD/ID with no biochemical positivity to SCADD

23

R

1.19

0.07

0.57

129

322

hypoglycaemia, elevated CK

24

R

1.00

0.10

0.53

60.88

N/A

mild MAC

25

R

1.90

0.14

1.98

52.34

657

DD

c.310_312delGAG/c.1138C>T

32

R

N/A

N/A

N/A

N/A

306

prematurity, severe DD/ID, quadruparesis, recurrent hypoglycaemia

33

R

N/A

N/A

N/A

N/A

965

DD/ID

(milder than brother - patient No. 32)

35

R

1.52

0.08

0.94

77.08

433

mild hepatomegaly, hyperammonemia, MAC

52

N/A

0.61

0.06

5.28

10.18

N/A

DD/ID c

c.310_312delGAG/c.625G>A

53

R

1.20

0.07

0.72

17.93

135

short stature, ophtalmoplegia (first sign – suspicion for congenital myasthenia), hypomimic facies, severe kyphoscoliosis, DD/ID, cachexia, hypotonus, respiratory failure, diffuse brain edema, coma vigile (high suspicion for other unknown neuromuscular disease)

54

R

N/A

N/A

N/A

N/A

71

epilepsy

55

R

0.44

0.03

0.19

50.42

54

recidivating granulomatous hepatopathy with hepatomegaly, mild hypertonus, mild DD/ID, epilepsy, apnoic pauses

56

R

0.86

0.03

0.41

21.15

110

recurrent seizures

  1. R Roma, C Caucasian, N/A not available
  2. areference values - C4-acylcarnitine 0–0.95 μmol.l−1; C4/C2 0–0.04; C4/C3 0.04–0.5; C4/C8 0.8–15 (values specified in the Slovak NBS Centre by MassChrom® Amino Acids and Acylcarnitines from Dried Blood - LC-MS/MS (Chromsystems)
  3. bEMA reference values according to Department of Molecular and Biochemical Genetics are in the interval 0.1–13.9 μmol/mmol creatinine
  4. crecommended repeated biochemical analysis to meet metabolic criteria for SCADD
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BMC Medical Genetics

ISSN: 1471-2350

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