PMM2-congenital disorder of glycosylation
The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
Also known as: CDG 1A, CDG syndrome type Ia, CDG-IA, CDG1A, PMM2-CDG, PMM2-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ia, congenital disorder of glycosylation type 1a, congenital disorder of glycosylation type Ia, phosphomannomutase 2 deficiency.
Category: General
Symptoms associated with PMM2-congenital disorder of glycosylation
The following symptoms have been associated with PMM2-congenital disorder of glycosylation in medical literature. Not everyone experiences the same symptoms.
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Edema
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Muscle weakness
Reduced strength of muscles....
Pericarditis
Inflammation of the sac-like covering around the heart (pericardium)....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate PMM2-congenital disorder of glycosylation
Healthcare providers may order these tests when evaluating PMM2-congenital disorder of glycosylation. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with PMM2-congenital disorder of glycosylation, which is why a clinical evaluation is important.
African trypanosomiasis
African trypanosomiasis is a medical condition that may be associated with various symptoms and signs....
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
Listeriosis
Listeriosis is a medical condition that may be associated with various symptoms and signs....
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is PMM2-congenital disorder of glycosylation?
PMM2-congenital disorder of glycosylation is a health condition described in medical literature. The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
What are the symptoms of PMM2-congenital disorder of glycosylation?
PMM2-congenital disorder of glycosylation is associated with 10 symptoms in the medical literature we index, including Diarrhea, Edema, Failure to thrive, Generalized-onset seizure, Intention tremor, Muscle weakness. Symptoms vary widely between individuals.
How is PMM2-congenital disorder of glycosylation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with PMM2-congenital disorder of glycosylation include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have PMM2-congenital disorder of glycosylation, please discuss your symptoms with a qualified healthcare provider.