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Phosphoglycerate kinase 1 deficiency

MedGen UID:
410166
Concept ID:
C1970848
Disease or Syndrome
Synonyms: PGK1 DEFICIENCY
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, Orphanet
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 recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PGK1 (Xq21.1)
OMIM®: 300653
Orphanet: ORPHA713

Definition

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006). [from OMIM]

Additional description

From GHR
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.  https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency

Clinical features

Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Rhabdomyolysis
MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Mood swings
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
A condition of frequent mood changes associated with excessive emotional reactions.
Migraine
MedGen UID:
57451
Concept ID:
C0149931
Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Exercise intolerance
MedGen UID:
603270
Concept ID:
C0424551
Finding
A reduction in the ability to perform or withstand activities that induce physical or mental exertion.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Renal insufficiency
MedGen UID:
326535
Concept ID:
C1839604
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Exercise-induced muscle cramps
MedGen UID:
383715
Concept ID:
C1855578
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced myoglobinuria
MedGen UID:
348016
Concept ID:
C1860069
Finding
Presence of myoglobin in the urine following exercise.
Visual loss
MedGen UID:
784038
Concept ID:
C3665386
Finding
Disturbance of eyesight.
Global developmental delay
MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhosphoglycerate kinase 1 deficiency

Recent clinical studies

Etiology

Mohd Khialdin S, Grigg J, Rowe N, Crofts S, Wilson M, Troedson C
Doc Ophthalmol 2015 Dec;131(3):215-20. Epub 2015 Sep 22 doi: 10.1007/s10633-015-9511-0. PMID: 26396085
Tamai M, Kawano T, Saito R, Sakurai K, Saito Y, Yamada H, Ida H, Akiyama M
Int J Hematol 2014 Oct;100(4):393-7. Epub 2014 Jun 17 doi: 10.1007/s12185-014-1615-x. PMID: 24934115

Diagnosis

Newman J, Kandikattu B
Pediatr Rev 2018 Jul;39(7):370-371. doi: 10.1542/pir.2017-0023. PMID: 29967083
Baba S, Kobayashi A, Yokoyama H, Moriyama K, Kashimada A, Oyama J, Owada A, Oyama S, Morio T, Takagi M
Brain Dev 2018 Feb;40(2):150-154. Epub 2017 Aug 8 doi: 10.1016/j.braindev.2017.07.009. PMID: 28801086
Coppens S, Koralkova P, Aeby A, Mojzikova R, Deconinck N, Kadhim H, van Wijk R
Neuromuscul Disord 2016 Mar;26(3):207-10. Epub 2015 Nov 30 doi: 10.1016/j.nmd.2015.11.008. PMID: 26883264
Mohd Khialdin S, Grigg J, Rowe N, Crofts S, Wilson M, Troedson C
Doc Ophthalmol 2015 Dec;131(3):215-20. Epub 2015 Sep 22 doi: 10.1007/s10633-015-9511-0. PMID: 26396085
Tamai M, Kawano T, Saito R, Sakurai K, Saito Y, Yamada H, Ida H, Akiyama M
Int J Hematol 2014 Oct;100(4):393-7. Epub 2014 Jun 17 doi: 10.1007/s12185-014-1615-x. PMID: 24934115

Therapy

Baba S, Kobayashi A, Yokoyama H, Moriyama K, Kashimada A, Oyama J, Owada A, Oyama S, Morio T, Takagi M
Brain Dev 2018 Feb;40(2):150-154. Epub 2017 Aug 8 doi: 10.1016/j.braindev.2017.07.009. PMID: 28801086

Prognosis

Mohd Khialdin S, Grigg J, Rowe N, Crofts S, Wilson M, Troedson C
Doc Ophthalmol 2015 Dec;131(3):215-20. Epub 2015 Sep 22 doi: 10.1007/s10633-015-9511-0. PMID: 26396085

Clinical prediction guides

Baba S, Kobayashi A, Yokoyama H, Moriyama K, Kashimada A, Oyama J, Owada A, Oyama S, Morio T, Takagi M
Brain Dev 2018 Feb;40(2):150-154. Epub 2017 Aug 8 doi: 10.1016/j.braindev.2017.07.009. PMID: 28801086

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