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Summary
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
617301
OMIM = Online Medalian Inheritance of Men
289863
1p34.1
rare
autosomal recessive
mutation in the SLC6A9 gene
symptoms
apnea
arthrogryposis
clubfoot
developmental delay
dysmorphism
encephalopathy
failure to thrive
hypertonia, spasticity
hypotonia
low set ears
microcephaly (<2 SD for age)
onset, childhood
onset, fetus
onset, infancy
onset, neonatal
respiratory insufficiency
swallowing difficulties
white matter changes, abnormalities
laboratory finding
Glycine mmol/mol creatinineurine
Glycine21.0033.00 +€mol/lcerebrospinal fluid
MRI, brain, white matter abnormalities -
Literature
Boutin S,Dalpke AHAcquisition and adaptation of the airway microbiota in the early life of cystic fibrosis patientsMol Cell Pediatr4112017
Esteban-Oliva D,Pintos-Morell G, Konrad MLong-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutationEur J Pediatr1684439-4422009
Snell G,et al.The evolution of lung transplantation for cystic fibrosis: A 2017 updateJ Cyst Fibros165553-5642017
Zhao Z,et al.Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemiaAm J Nephrol376541-5482013