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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (MMDS3)
615330
OMIM = Online Medalian Inheritance of Men
363424
very rare
autosomal recessive
mutation in the IBA57 gene
symptoms
arthrogryposis
blindness, visual loss, visual impairment
cerebral atrophy
cognitive impairment
encephalopathy
feeding difficulties, poor feeding
high arched palate
hypotonia
intrauterine growth retardation
irritability
lactic acidosis
leukodystrophy
metabolic acidosis
microcephaly (<2 SD for age)
nystagmus
onset, fetus
onset, neonatal
optic atrophy
periventricular white matter changes
polyhydramnion (maternal)
respiratory insufficiency
seizures
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Glycine mmol/lcerebrospinal fluid
Glycine mmol/lserum
Literature
Whyte MP,et al.Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosologyBone110096-1062018
Whyte MP,et al.Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosologyBone110096-1062018
Whyte MPHypophosphatasia: An overview For 2017Bone102015-252017
Whyte MPHypophosphatasia: An overview For 2017Bone102015-252017
Whyte MP,et al.Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosologyBone110096-1062018
Gennero I,Conte-Auriol F, Salles JPLaboratory diagnosis of hypophosphatasiaArch Pediatr242525S57-5S602017