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Summary
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (ECHS1D, SCEH)
616277
OMIM = Online Medalian Inheritance of Men
255241
10q26.3
rare
autosomal recessive
mutation in the ECHS1 gene
symptoms
apnea
basal ganglia, changes, lesions, calcifications (MRI, CT)
cardiomyopathy
cerebral atrophy
developmental delay
dyskinesia
dystonia
early death
encephalopathy
epilepsy
hearing defect, deafness
hypertonia, spasticity
hypotonia
lactic acidosis
leukoencephalopathy
metabolic acidosis
motor retardation
nystagmus
onset, infancy
onset, neonatal
optic atrophy
seizures
laboratory finding
Lactic acid2.0012.00 mmol/lplasma
Glyoxylic acid0.000.00 increasedurine
Lactic acid0.000.00 increasedcerebrospinal fluid
2-methyl-2,3-dihydroxybutyrate0.000.00 mmol/mol creatinineurine
Pyruvic acid mmol/lcerebrospinal fluid
Alanine 1000.00 +€mol/lplasma
2-Oxoisovaleric acid mmol/mol Creaurine
2-Oxoisocaproic acid mmol/mol Creaurine
3-Methylglutaconic acid20.00200.00 mmol/mol Creaurine
Lactic acid400.00800.00 mmol/mol Creaurine
S-2-carboxypropyl-cysteine mmol/mol creatinineurine
S-2-carboxypropyl-cysteamine mmol/mol creatinineurine
Alanine +€mol/lcerebrospinal fluid
Literature
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Lawson AJ,et al.Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1Proc Natl Acad Sci U S A108104111-41162011
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