Table 3.
Biochemical, imaging, and genetic results of children with metabolic epilepsies who underwent genetic tests
| Metabolic disorder | MRI brain | Biochemical tests | Genetic Result |
|---|---|---|---|
| Biotinidase deficiency | Hypomyelination | Low serum biotinidase | Homozygous for p.Q336X mutation |
| Biotinidase deficiency | Normal | Low serum biotinidase | c. 38_44delGCGG homozygous insertion mutation in BTD gene |
| Biotinidase deficiency | Normal | Low serum biotinidase | c. 1552C >T homozygous mutation in BTD gene |
| Pyridoxin Dependency | Thin corpus callosum | c. 1556G >A homozygous mutation in ALDH1A1gene | |
| Biotin thiamine responsive basal ganglia disease | Bilateral hyperintensities in striatum | c. 593T >C homozygous mutation in SLC19A3 gene | |
| Molybdenum cofactor deficiency | Multi cystic encephalomalacia | Low serum uric acid, high urine sulphites | c. 1762G >A homozygous mutation in MOCS1 gene |
| N- Acetyl Glutamate Synthase deficiency | Multi cystic encephalomalacia | Hyperammonemia, Low citrulline | c. 1535A >G homozygous mutation in NAGS gene |
| Non ketotic hyperglycinemia | diffusion restriction - internal capsule | Elevated CSF, serum glycine, ratio 0.09 | c. 2675C >T homozygous mutation in GLDC gene |
| L2-OH glutaric aciduria | subcortical WM involvement, peri ventricular sparing | c. 829 C >T homozygous mutation in L2HGDH gene | |
| L2-OH glutaric aciduria | Subcortical WM involvement, peri ventricular sparing | c. 829 C >T homozygous mutation in L2HGDH gene | |
| L2-OH glutaric aciduria | Subcortical WM involvement, peri ventricular sparing | homozygous deletion [chr: 14?50750588_?50750751_del] in L2HGDH gene | |
| GAMT deficiency | Globus pallidi HI Absent creatine peak in MRS | c. 164_171del-homozygous deletion in GAMT gene | |
| Fructose1,6 bis phosphatase def | Bilateral basal ganglia, midbrain | Hypoglycemia | c. 960_961insG homozygous insertion mutation in FBP1gene |
| Mitochondrial complex I | Bilateral basal ganglia, midbrain | Elevated serum lactate | c. 1156C >T homozygous mutation in NDUFV1 gene |
| Mitochondrial complex III deficiency | deep WM, diffusion restriction and rarefaction, lactate peak in MRS | Elevated serum lactate | c. 2T >C homozygous mutation in LYRM7 gene |
| Mitochondrial complex I def | Bilateral BG involvement | Elevated serum lactate | c. 1118T >C homozygous mutation in NDUFV1 gene |
| Metachromatic leuco dystrophy | Symmetrical periventricularWM | Low serum aryl sulfatase | c. 739G >A homozygous mutation in ARSA gene |
| Nieman Pick C disease | Normal | c. 436C >T homozygous mutation in NPC2 gene | |
| Neuronal ceroid lipofuscinosis-8 | Cerebral and cerebellar atrophy | c. 598_599delAThomozygous deletion in CLN 8 gene | |
| Neuronal ceroid lipofuscinosis-1 | Cerebral and cerebellar atrophy | c. 713C >T homozygous mutation in PPT1 gene | |
| Neuronal ceroid lipofuscinosis -2 | Cerebral and cerebellar atrophy, periventricularWM | c. 622 C >T homozygous mutation in TPP1 gene | |
| Zellweger syndrome | Perisylvian polymicrogyria | Elevated VLFA, low plasmalogen | C126+1G >T homozygous mutation in PEX12 gene |
| Adreno leukodystrophy | bilateral parieto occipital WM with contrast enhancement | Elevated VLFA | c. 1876G >A hemizygous missense mutation in ABCD1 gene |
HI, hyperintensities; WM, whitw matter; BG, basal ganglia; VLFA, very long chain fatty acids.