ea0065p249 | Metabolism and Obesity | SFEBES2019
Shah Shanty
, DSilva Deborah
, Arunachalam Col.
, Ganesh MK
, Shenoy Ram
, Sudeep K
Background: H syndrome is a rare autosomal recessive disorder characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, hypogonadism, hyperglycaemia (insulin-dependent diabetes), hallux valgus and low height (short stature) and systemic inflammation. Caused by mutations in SLC29A3 gene located on chromosome 10q23 which encodes the human equilibrative nucleoside transporter 3 (hENT3). We report this case to highlight the rarity of the Syn...