X-Linked Liver Phosphorylase Kinase Deficiency Is Associated with Mutations in the Human Liver Phosphorylase Kinase a Subunit
نویسندگان
چکیده
منابع مشابه
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.
Two Dutch patients with liver phosphorylase kinase (PhK) deficiency were studied for abnormalities in the PhK liver alpha (alpha L) subunit mRNA by reversed-transcribed-PCR (RT-PCR) and RNase protection assays. One patient, belonging to a large Dutch family that expresses X-linked liver PhK deficiency, had a C3614T mutation in the PhK alpha L coding sequence. The C3614T mutation leads to replac...
متن کاملLiver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.
Mutations in three different genes of phosphorylase kinase (Phk) subunits, PHKA2, PHKB and PHKG2, can give rise to glycogen storage disease of the liver. The autosomal-recessive, liver-specific variant of Phk deficiency is caused by mutations in the gene encoding the testis/liver isoform of the catalytic gamma subunit, PHKG2. To facilitate mutation detection and to improve our understanding of ...
متن کاملGlycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.
1. The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human haemolysate were investigated. The two forms of phosphorylase have the same affinity for glucose 1-phosphate but greatly differ in Vmax. Phosphorylase b is only partially stimulated by AMP, since, in the presence of the nucleotide, it is about tenfold less active than pho...
متن کاملPhosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.
Studies of a child with glycogenosis revealed an increased concentration of glycogen and low phosphorylase activity in her liver. Using mixtures of homogenates of the patient's liver and of normal liver, we found the low phosphorylase activity to be caused by a deficiency of phosphorylase kinase and not of hepatic phosphorylase. The fact that phosphorylase activity was restored to normal values...
متن کاملDiscovery of a Genetic Metabolic Cause for Mauriac Syndrome in Type 1 Diabetes.
A mechanistic cause for Mauriac syndrome, a syndrome of growth failure and delayed puberty associated with massive liver enlargement from glycogen deposition in children with poorly controlled type 1 diabetes, is unknown. We discovered a mutation in the catalytic subunit of liver glycogen phosphorylase kinase in a patient with Mauriac syndrome whose liver extended into his pelvis. Glycogen phos...
متن کامل