Clinical Signs and Symptoms
ORPHA:79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal enzyme/coenzyme activity HP:0012379
- Hepatomegaly HP:0002240
- Hypertriglyceridemia HP:0002155
- Postnatal growth retardation HP:0008897
Very frequent
- Elevated hepatic transaminase HP:0002910
- Fasting hypoglycemia HP:0003162
- Hepatic fibrosis HP:0001395
- Hypercholesterolemia HP:0003124
Frequent
- Cirrhosis HP:0001394
- Delayed gross motor development HP:0002194
- Delayed speech and language development HP:0000750
- Dysmenorrhea HP:0100607
- Elevated serum creatine kinase HP:0003236
- Exercise intolerance HP:0003546
- Fatigue HP:0012378
- Irregular menstruation HP:0000858
- Ketotic hypoglycemia HP:0012734
- Limb-girdle muscle weakness HP:0003325
- Mild global developmental delay HP:0011342
- Muscle spasm HP:0003394
- Muscular hypotonia HP:0001252
- Myalgia HP:0003326
- Oligomenorrhea HP:0000876
- Pelvic girdle muscle weakness HP:0003749
- Polycystic ovaries HP:0000147
- Progressive muscle weakness HP:0003323
- Recurrent hypoglycemia HP:0001988
- Recurrent infections HP:0002719
- Renal tubular acidosis HP:0001947
- Short stature HP:0004322
- Skeletal muscle atrophy HP:0003202
- Splenomegaly HP:0001744
Occasional
- Anemia HP:0001903
- Diarrhea HP:0002014
- Hepatocellular adenoma HP:0012028
- Hepatocellular carcinoma HP:0001402
- Increased body weight HP:0004324
- Lactic acidosis HP:0003128
- Myoglobinuria HP:0002913
- Nausea HP:0002018
- Osteoporosis HP:0000939
- Rhabdomyolysis HP:0003201
- Vomiting HP:0002013
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.