|
Carnitine transport cycle and transport
|
| Carnitine O-palmitoyltransferase 1A (CPT1A) |
CPT1A |
Yes |
Reye-like syndrome, hypoketosis, coma, hyperammonaemia, hypertriglyceridemia, renal tubular acidosis, hypoglycaemia, hepatomegaly, lethargy, hypotonia, hyperemesis, diarrhoea, hyperbilirubinemia, acute fatty liver of pregnancy, hyperemesis |
| Carnitine O-palmitoyltransferase 1B (CPT1B) |
CPT1B |
No |
|
| Carnitine O-palmitoyltransferase 1C (CPT1C) |
CPT1C |
Yes |
Spastic paraplegia |
| Carnitine O-palmitoyltransferase 2 (CPT2) |
CPT2 |
Yes |
Hypothermia, lethargy, seizures, hypotonia, cardiomegaly, hyperreflexia, cardiac arrhythmias, lipid accumulation in liver, heart and kidney, polymicrogyria in brain, microcephaly |
| Carnitine acylcarnitine translocase (CACT) |
SLC25A20 |
Yes |
Cardiomyopathy, liver dysfunction, apnoea, seizures, tachycardia, hypotension, coma, hypoglycaemia, dicarboxylic aciduria, hypocarnitinemia, < tex − math/ > hepatomegaly, sudden infant death |
| Organic cation/carnitine transporter 2 |
SLC22A5 |
Yes |
Systemic carnitine deficiency, hypoketotic hypoglycaemia, skeletal myopathy, cardiomyopathy |
| Fatty acid β-oxidation cycle |
| Very-long chain acyl-CoA dehydrogenase (VLCAD) |
ACADVL |
Yes |
Rhabdomyolysis, hypoglycaemia, myopathy, myoglobinuria, hepatomegaly, cardiomegaly, cardiac arrest, hypotonia, lipid accumulation in various tissues |
| Long-chain acyl-CoA dehydrogenase (LCAD) |
ACADL |
No |
|
| Medium-chain acyl-CoA dehydrogenase (MCAD) |
ACADM |
Yes |
Sudden Infant Death, hypoglycaemia, lethargy, coma, fatty deposits in liver, Reye-like syndrome, hyperammonaemia, cardiomyopathy |
| Short chain acyl-CoA dehydrogenase (SCAD) |
ACADS |
Yes |
Acidosis, neurological impairment, myopathy, muscle weakness, emesis, failure to thrive, developmental delay, hypertonia, hyperactivity, reduced consciousness |
| Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial (SBCAD) |
ACADSB |
Yes |
2-Methylbutyryl glycinuria |
| Mitochondrial trifunctional protein (MTP) |
|
|
|
| Long chain enoyl-CoA hydratase (LCEH) |
HADHA |
Yes |
Cardiomyopathy, Reye-like Syndrome, liver dysfunction, myopathy, rhabdomyolysis, metabolic acidosis, neuropathy, maternal HELLP syndrome, preeclampsia, acute liver failure of pregnancy, developmental delay, myoglobinuria, hypoparathyroidism |
| Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) |
HADHA |
Yes |
|
| Long-chain 3-ketoacyl-CoA thiolase (LCKAT) |
HADHB |
Yes |
|
| 3-Ketoacyl-CoA thiolase (KAT) |
ACAA2 |
No |
|
| Hydroxyacyl-CoA dehydrogenase (HADH) |
HADH |
Yes |
Familial hyperinsulinaemic hypoglycaemia |
| Others |
|
|
|
| Acyl-CoA dehydrogenase 9 (ACAD9) |
ACAD9 |
Yes |
Leigh Syndrome, complex I deficiency, cardiomyopathy, muscle weakness, metabolic acidosis |
| Acyl-CoA dehydrogenase 10 (ACAD10) |
ACAD10 |
No |
|
| Acyl-CoA dehydrogenase 11 (ACAD11) |
ACAD11 |
No |
|
| Electron transfer flavoprotein (ETF) |
ETFA, ETFB |
Yes |
Glutaric aciduria 2A and 2B, multiple Acyl-CoA dehydrogenase deficiency, isolated myopathy |
| Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF-QO) |
ETFDH |
Yes |
Glutaric aciduria 2C, multiple acyl-CoA dehydrogenase deficiency |
| Enoyl-CoA hydratase, short chain 1 (ECHS1) |
ECHS1 |
Yes |
Development delay, cardiomyopathy, apnoea, Leigh syndrome |
| Enoyl-CoA delta isomerase, 1 (ECI1) |
ECI1 |
No |
|
| Enoyl-CoA delta isomerase, 2 (ECI2) |
ECI2 |
No |
|
| 2,4-Dienoyl-CoA reductase (DECR1) |
DECR1 |
No |
|
| Delta(3,5)-delta(2,4)-dienoyl-CoA isomerase, mitochondrial |
ECH1 |
No |
|
| propionyl-CoA carboxylase (PCC) |
PCCA, PCCB |
Yes |
Propionic academia type I and II, episodic vomiting, lethargy, ketosis, neutropenia, thrombocytopenia, hyperglycinuria, hyperglycinaemia, hypogammaglobulinemia, developmental delay, protein intolerance |
| Methylmalonyl-CoA epimerase (MCEE) |
MCCE |
Yes |
Methylmalonic aciduria, retarded motor development, spasticity, dystonia, failure to thrive, gastroesophageal reflux, metabolic acidosis, dehydration, tachypnea, ketonuria, hydrocephalus and macrocephaly |
| Methylmalonyl-CoA mutase (MCM) |
MUT |
Yes |
Methylmalonic aciduria type mut, poor feeding, dehydration, metabolic acidosis, valine intolerance, lethargy, ketoacidosis, multi-organ failure, developmental delay, interstitial nephritis, seizures, basal ganglia infarct |
