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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (MC1DN19)
FOXRED1
618241
OMIM = Online Medalian Inheritance of Men
2609
11q24.2
very rare
autosomal recessive
mutation in the FOXRED1 gene
symptoms
abnormal movement
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, hypertrophic
cerebellar atrophy or hypoplasia
defect of walking, running, rising or climbing
developmental delay
epilepsy
feeding difficulties, poor feeding
gait disturbance
hypoglycemia
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
myelination, incomplete, hypomyelination
myoclonus
onset, infancy
onset, neonatal
optic atrophy
respiratory insufficiency
scoliosis
seizures
speech development, delayed, abnormal
white matter changes, abnormalities
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
D-Glucose mmol/lserum
L-Lactic acid mmol/mol Creaurine
Literature
Fitzsimons PE,et al.Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiencyAm J Med Genet A17651115-11272018
Bedoyan JK,et al.Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiencyMol Genet Metab1204342-3492017
Sass JO,et al.Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystoniaMetab Brain Dis313587-5922016
Yang H,et al.Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiencyJ Med Genet544241-2472017
Liu CC,et al.Urinary melamine excretion and increased markers of renal tubular injury in patients with calcium urolithiasis: A cross-sectional studyEnviron Pollut23121284-12902017