Phosphorylase kinase-deficient liver glycogenosis manifests in infancy with @entity382 , @entity851 , and elevated plasma aminotransferases and lipids. It can be caused by mutations in three different genes of phosphorylase kinase subunits: @entity29768 , @entity60802 , and @entity60803 . It is usually a benign condition, often with complete resolution of symptoms during puberty. A minority of @entity1 displays a more severe phenotype with symptomatic fasting @entity4053 and abnormal liver histology that may progress to @entity82 . Three @entity1 with @entity1575 in childhood analyzed previously all had @entity60803 mutations. This suggested that this genotype may generally cause a more severe clinical manifestation, but to date @entity60803 mutations have been identified in only seven @entity1 . Here, we report mutation analysis in three new @entity1 with @entity3250 and recurrent @entity4053 , @entity1575 , and lack of glucagon response but no overt @entity82 . In all three @entity1 , @entity60803 mutations were found ( @entity69727 , @entity69728 , @entity69729 , @entity69730 ). Three of these mutations are novel, bringing the total number of distinct @entity1 @entity60803 mutations to 11, found in 10 @entity1 . We conclude that @entity3250 with a severe phenotype, with or without @entity82 , is indeed often caused by @entity60803 mutations. These @entity1 require active measures to maintain normoglycemia (raw cornstarch, nocturnal tube feeding), which may also alleviate @entity851 and the development of abnormal liver histology.

Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the XXXX gene.

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity69728 :: ('p|SUB|E|157|K', 'ProteinMutation') :: ['E157K'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth retardation'] @entity82 :: ('MESH:D005355', 'Disease') :: ['cirrhosis'] @entity60802 :: ('5257', 'Gene') :: ['PHKB'] @entity3250 :: ('MESH:D006013', 'Disease') :: ['liver phosphorylase kinase deficiency'] @entity69729 :: ('p|SUB|D|215|N', 'ProteinMutation') :: ['D215N'] @entity4053 :: ('MESH:D007003', 'Disease') :: ['hypoglycemia'] @entity29768 :: ('5256', 'Gene') :: ['PHKA2'] @entity382 :: ('MESH:D006529', 'Disease') :: ['hepatomegaly'] @entity1575 :: ('MESH:D008103', 'Disease') :: ['liver fibrosis', 'liver cirrhosis'] @entity69727 :: ('p|INS|89|FS,C', 'ProteinMutation') :: ['H89fs[insC]'] @entity60803 :: ('5261', 'Gene') :: ['PHKG2'] @entity69730 :: ('p|SUB|W|300|X', 'ProteinMutation') :: ['W300X']
@entity60803 :: (5261,Gene) :: ['PHKG2']
