National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hyperglycerolemia



Other Names:
Glycerol kinase deficiency; GKD; GK deficiency; Glycerol kinase deficiency; GKD; GK deficiency; GK1 deficiency See More
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 408

Definition
Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD (see these terms)).

Visit the Orphanet disease page for more resources.
Last updated: 1/1/2013

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adrenocortical hypoplasia
Small adrenal cortex
0008182
Elevated serum creatine kinase
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ]
0003236
EMG abnormality 0003457
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Metabolic acidosis 0001942
Muscular hypotonia
Low or weak muscle tone
0001252
Myopathy
Muscle tissue disease
0003198
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment
[ more ]
0002167
Reduced tendon reflexes 0001315
Short stature
Decreased body height
Small stature
[ more ]
0004322
30%-79% of people have these symptoms
Cryptorchidism
Undescended testis
Undescended testes
[ more ]
0000028
EEG abnormality 0002353
Hyperlordosis
Prominent swayback
0003307
Osteoporosis 0000939
Scoliosis 0002650
Seizure 0001250
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Percent of people who have these symptoms is not available through HPO
Coma 0001259
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth
[ more ]
0002714
Episodic vomiting 0002572
Frontal bossing 0002007
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
0002155
Hypoglycemia
Low blood sugar
0001943
Increased urinary glycerol 0040301
Ketoacidosis 0001993
Lethargy 0001254
Loss of consciousness
Passing out
0007185
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Muscular dystrophy 0003560
Pathologic fracture
Spontaneous fracture
0002756
Psychomotor retardation 0025356
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
X-linked dominant inheritance 0001423
X-linked inheritance 0001417
X-linked recessive inheritance 0001419
Showing of 39 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperglycerolemia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.