ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.2-5 | Neonatal hypoglycaemia | ESPEYB19

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

MA Shahrour , FM Lasorsa , V Porcelli , I Dweikat , MA Di Noia , M Gur , G Agostino , A Shaag , T Rinaldi , G Gasparre , F Guerra , A Castegna , S Todisco , B Abu-Libdeh , O Elpeleg , L Palmieri

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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