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Summary
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY ECHS1D
616277
OMIM = Online Medalian Inheritance of Men
255241
10q26.3
rare
autosomal recessive
symptoms
apnea
basal ganglia, changes
cardiomyopathy
cerebral atrophy
dyskinesia
early death
encephalopathy
hearing defect, deafness
hypertonia, spasticity
hypotonia
lactic acidosis
leukoencephalopathy
metabolic acidosis
motor retardation
nystagmus
onset, newborn
optic atrophy
seizures
laboratory finding
Lactate0.000.00 increasedserum
Glyoxylic acid0.000.00 increasedurine
Lactate0.000.00 increasedcerebrospinal fluid
2-methyl-2,3-dihydroxybutyrate0.000.00 increasedurine
Literature
Pruss HBohner G, Zschenderlein RParoxysmal vertigo as the presenting symptom of Fabry diseaseNeurology6622492006
Knerr I,et al.Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patientsCNS Spectr137598-6052008
Finer NNet al.Surfactant use for neonatal lung injury: beyond respiratory distress syndromePaediatr Respir Rev Suppl50S289-2972004
Matsuishi Tet al.Lipid storage myopathy associated with recurrent Reye syndrome-like attacks, but with a normal carnitine levelBrain Dev102125-1291988
Suzuki Yet al.Bone marrow transplantation for the treatment of X-linked adrenoleukodystrophyJ Inherit Metab Dis235453-4582000
Kattan AKBulagannawar PS, Malik IHCongenital alveolar proteinosisSaudi Med J25101474-14772004
Zecca Eet al.Bile acid pneumonia: a new form of neonatal respiratory distress syndrome?Pediatrics1141269-2722004
Sleight Eet al.Neonatal respiratory distress in near-term infants--consider surfactant protein B deficiencyActa Paediatr864428-4301997