Hepatomegaly is seen in all except: Type 0 (Glycogen synthase deficiency) Type IV or Anderson’s disease (Hepatomegaly may be absent and death is early, i.e. in 2 years due to early cirrhosis) Hepatomegaly with splenomegaly and other generalized signs [epomedicine.com]

Early infancy; rarely, the neonatal period, late childhood, or adulthood (manifesting as a variant nonprogressive or a neuromuscular form) Clinical features: Hepatomegaly with progressive cirrhosis and hypoglycemia, esophageal varices, and ascites; splenomegaly [merckmanuals.com]

Splenomegaly, liver cirrhosis, doll facies, osteoporosis, neurologic disease, elevated serum lactate, metabolic acidosis and renal tubular acidosis have been described very rarely. [wjgnet.com]

Deficiency Cardinal Clinical Features Distinctive Features Type 0 Glycogen synthase Fasting hypoglycemia and ketosis No hepatomegaly; postprandial hyperglycemia and hyperlactatemia Type IA Glucose-6-phosphatase Severe hypoglycemia; hepatomegaly; No splenomegaly [clinicaladvisor.com]

An increased risk of cirrhosis due to liver fibrosis is observed in cases with autosomal recessive inheritance. [orpha.net]

In contrast, individuals with mutations in the PHKG2 subunit of the PHK enzyme usually have more severe symptoms; PHKG2 gene changes are particularly associated with recurrent hypoglycemia, hepatomegaly and rarely liver fibrosis. [agsdus.org]

PHKG2 deficiency is a more severe disorder with a high preponderance to liver fibrosis. There have been several reports of this morbidity but this seems to stabilise over time with treatment. Long-term outcome data are not available. [tp.amegroups.com]

Full-cheeked round face and osteopenia have been reported on exceptional occasions in cases with an X-linked inheritance. An increased risk of cirrhosis due to liver fibrosis is observed in cases with autosomal recessive inheritance. [orpha.net]

Generalized osteopenia develops early and may lead to fractures. Hypophosphatemic rickets and osteoporosis later in life are constant features. [wjgnet.com]

Motor developmental delay can occur in GSD IIIa and both forms can be associated with osteopenia. [tp.amegroups.com]

Anterior pelvic tilt; Forward trunk lean Relatively spared muscles Hip flexors Spinal extensors Skeletal Contractures Hip flexors Iliotibial bands Plantar flexors: Foot Posterior tibial Plantar fascia Scoliosis: Less than untreated patients Bone issues: Osteopenia [neuromuscular.wustl.edu]

Clinical features are muscle hypotonia and cirrhosis. Death from liver disease usually occurs before age 2. [icd10data.com]

hypotonia, hypercholesterolemia Treatment: Nonspecific Type VIII/IXa: X-linked phosphorylase kinase PHKA2 (Xp22)* Type IXb Liver and muscle phosphorylase kinase PHKB (16q12-q13)* Type IXc Liver phosphorylase kinase PHKG2 (16p12.1-p11.2)* Type IXd Muscle [merckmanuals.com]

Full-cheeked round face and osteopenia have been reported on exceptional occasions in cases with an X-linked inheritance. An increased risk of cirrhosis due to liver fibrosis is observed in cases with autosomal recessive inheritance. [orpha.net]

The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. [books.google.com]

[…] distention, hepatomegaly, renomegaly, mild fasting hypoglycemia and hyperlipidemia, glucose intolerance, renal Fanconi syndrome Treatment: Diet similar to that for diabetes, high fructose intake to maintain normoglycemia, replacement of renally lost [merckmanuals.com]

Differentiating patients with GSD type III from those with GSD type I solely on the basis of physical findings is not easy, but the hepatomegaly, increased liver glycogen content, fasting hypoglycemia, and muscle weakness are consistent with Cori disease [usmle.biochemistryformedics.com]

None of the patients experienced symptomatic fasting hypoglycemia at the time of diagnosis or during the follow-up period. [bmcmedgenet.biomedcentral.com]

As a consequence, patients with GSD type I have fasting hypoglycemia. Despite the metabolic block, the endogenous glucose formation is not fully inhibited. [emedicine.medscape.com]

Interrelationships of metabolic pathway disruption in von Gierke disease : In the absence of glucose-6-phosphatase activity free glucose cannot be release from the liver contibuting to severe fasting hypoglycemia. [themedicalbiochemistrypage.org]

They often show signs of transaminase and triglyceride elevation, but cirrhosis is very rare 4. [path.upmc.edu]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]

Diagnostic methods Biochemical diagnosis is made by measuring phosphorylase kinase activity in blood cells or in a liver biopsy. Some patients may have normal activity in red blood cells (XLG2 variant). Serum transaminase levels may be elevated. [orpha.net]

Liver biopsy revealed an increase in the glycogen content (6 percent of wet weight). In which of the following enzymes is a genetic deficiency most likely for this patient? A. Branching enzyme B. Debranching enzyme C. Glucose-6-phosphatase D. [usmle.biochemistryformedics.com]

One patient who was referred from an outside hospital was reported to be PAS in liver biopsy, but limited information was available because the liver biopsy had been performed at the outside hospital. [bmcmedgenet.biomedcentral.com]