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 |