|| In type-1 diabetics (only), Mauriac syndrome predicted
, also known as c.1136G>A, p.Arg309Gln and R309Q, is a rare variant in the PHKG2
gene on chromosome 16. The PHKG2
gene encodes an enzyme required to break down glycogen in the liver.
In a pediatric patient with Mauriac syndrome, a rare syndrome found in some children with poorly controlled type-1 diabetes, a single rs572115942(A) allele was found by sequencing. The patient's mother carried the same allele, but did not have diabetes or hepatomegaly; his father had childhood type-1 diabetes but didn't have the mutation, hepatomegaly or growth failure. The authors conclude that in patients with type-1 diabetes, liver glycogen accumulates due to combination of the mutated enzyme and high blood sugar, leading to the enlarged liver and Mauriac syndrome.[PMID 27207549]