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Deficiency of glycerol kinase(GKD)

MedGen UID:
82803
Concept ID:
C0268418
Disease or Syndrome
Synonyms: GK deficiency; GK1 deficiency; GKD; Glycerol kinase deficiency; Glycerol Kinase Deficiency; Hyperglycerolemia
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: HPO
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: HPO
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
SNOMED CT: Deficiency of glycerol kinase (124322002); Glycerol kinase deficiency (124322002); GKD - Glycerol kinase deficiency (124322002); GK1 deficiency (124322002); Familial hyperglycerolemia (124322002); Hyperglycerolemia (124322002)
 
Gene (location): GK (Xp21.2)
OMIM®: 307030
Orphanet: ORPHA308993

Definition

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously. The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (300679) with congenital adrenal hypoplasia (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). [from OMIM]

Clinical features

Addison Disease
MedGen UID:
1324
Concept ID:
C0001403
Disease or Syndrome
Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones. A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer. Symptoms include. -Weight loss . -Muscle weakness . -Fatigue that gets worse over time . -Low blood pressure . -Patchy or dark skin . Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Adrenocortical hypoplasia
MedGen UID:
870278
Concept ID:
C4024719
Anatomical Abnormality
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Low birth weight infant
MedGen UID:
7064
Concept ID:
C0021288
Patient or Disabled Group
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Low set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia. NIH: National Institute of Neurological Disorders and Stroke.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Lethargy
MedGen UID:
7310
Concept ID:
C0023380
Sign or Symptom
A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Cognitive impairment
MedGen UID:
90932
Concept ID:
C0338656
Mental or Behavioral Dysfunction
a condition where a person has problems with the ability to think and learn
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Decreased to absent deep tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Episodic vomiting
MedGen UID:
333228
Concept ID:
C1838993
Finding
Paroxysmal, recurrent episodes of vomiting.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Myopathy
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Congenital Abnormality
Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke.
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Abnormal results of investigations using electromyography (EMG).
Hypoglycemia
MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include . -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Metabolic acidosis
MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
Ketoacidosis
MedGen UID:
67434
Concept ID:
C0220982
Pathologic Function
Acidosis resulting from accumulation of ketone bodies.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Finding
An abnormal increase in the level of triglycerides in the blood.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Pathologic fracture
MedGen UID:
42095
Concept ID:
C0016663
Pathologic Function
Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include . - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Craniofacial Abnormalities
MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Finding
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of glycerol kinase
Follow this link to review classifications for Deficiency of glycerol kinase in Orphanet.

Recent clinical studies

Diagnosis

Eriksson A, Lindstedt S, Ransnäs L, von Wendt L
Clin Chem 1983 Apr;29(4):718-22. PMID: 6299616

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