Presentation
It has been described in patients presenting with congenital hepatic fibrosis and protein losing enteropathy. The symptoms result from hypoglycosylation of serum- and other glycoproteins. [rug.nl]
He presented at 6 months with hypoglycaemia, failure to thrive and hypertransaminasaemia. He subsequently developed an enteropathy with subtotal villous atrophy on biopsy. [ncbi.nlm.nih.gov]
This glycan also appeared to be present together with the corresponding fucosylated one (NeuAc1Hex5HexNAc3dHex1; m/z 2,360) which was not present in the control. [journals.plos.org]
Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.es]
Gastrointestinal
- Failure to Thrive
Feeding difficulties can lead to a failure to gain weight and grow slower than normal (failure to thrive). Ocular abnormalities, sensorineural hearing loss, cardiac abnormalities and skeletal dysplasias are possible. [fcdgc.rarediseasesnetwork.org]
G-tube placement for severe failure to thrive 9. [slideshare.net]
Instead, patients present predominantly with diarrhoea, failure to thrive and protein-losing enteropathy (Pelletier et al. 1986). [reactome.org]
DOLK-CDG – Symptoms may include seizures, low muscle tone or floppiness (hypotonia), abnormally small head (microcephaly), scaly skin and failure to thrive. [chop.edu]
Homepage Rare diseases Search Search for a rare disease MPI-CDG Disease definition MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal [orpha.net]
Cardiovascular
- Hypertension
Keywords Non-cirrhotic portal hypertension Portal hypertension Variceal bleeding Portal vein thrombosis Introduction Idiopathic non-cirrhotic portal hypertension (INCPH) is a rare disease characterized by of intrahepatic portal hypertension in the absence [ojrd.biomedcentral.com]
When she was 2 years old she was diagnosed with failure to thrive, congenital hepatic fibrosis, and portal hypertension, with hepatic vein thrombosis. Protein-losing enteropathy was treated with low-fat diet and repeated albumin infusions. [pediatrics.aappublications.org]
Other features are constipation, extremity pain, paresthesias, nausea, vomiting, urinary retention, hypertension, peripheral sensory deficits (often in a “bathing trunk” distribution), and weakness leading to ascending paralysis or quadriplegia. [clinicalgate.com]
She had previously been diagnosed with congenital disorder of glycosylation type Ib, and had a history of congenital hepatic fibrosis, portal hypertension and esophageal varices. [lymphedemapeople.com]
Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration. [ncbi.nlm.nih.gov]
Liver, Gall & Pancreas
- Jaundice
The proband developed hemolytic jaundice associated to mannose supplementation and secondary pulmonary involvement necessitating liver transplant. [ommbidblog.com]
Repeated mannose therapy, even at a low dose of 100 mg/kg/day, led to improvement of the metabolic abnormalities, but progressive hemolytic jaundice appeared again. [pediatrics.aappublications.org]
(The approach to the patient with jaundice is discussed in detail in Chapter 20 .) Any patient with progressive neuromuscular disease, developmental delay, or regression of developmental milestones also requires evaluation. [clinicalgate.com]
Liver function tests Liver function tests are usually within normal range; jaundice is rarely seen at diagnosis. Transient impairments in liver function may occur in the context of variceal bleeding or infection. [ojrd.biomedcentral.com]
The two sibling neonates recently described with a multi-systemic disorder had perinatal asphyxia, mild dysmorphic features, hypotonia, prolonged jaundice and hepatosplenomegaly with evidence of liver disease. [nature.com]
Musculoskeletal
- Osteopenia
Other features include pleural effusions, osteopenia, recurrent fractures, kyphosis, dystrophic limbs, weakness, and joint contractures. [accessanesthesiology.mhmedical.com]
[…] unusually distributed subcutaneous fatpads on buttocks, joint contractures severity is variable initial mortality 20% if survive, psychomotor retardation, hypotnoia, ataxia, polyneuropathy, retinitis pigmentosa, transient stroke-like episodes, seizures osteopenia [emilytam.com]
Osteopenia or osteoporosis was present in all patients of our cohort, sometimes with severe clinical implications. [ojrd.biomedcentral.com]
Adults with PMM2-CDG may live until their 7th or 8th decades with stable cognitive delay, peripheral neuropathy, and progressive thoracic and spinal kyphoscoliosis with osteopenia or osteoporosis (34). [ncbi.nlm.nih.gov]
As a rule there is osteopenia. A very common feature is cerebellar hypoplasia, which can usually be documented at or shortly after birth. [nature.com]
- Muscle Hypotonia
Hydrops fetalis was noticed in 3, edemas in 11/13; gastrointestinal symptoms in 9/14; structural brain pathology, psychomental retardation, seizures, ataxia in 12/13, muscle hypotonia in 13/14. [ojrd.biomedcentral.com]
Neurologic
- Abnormal Gait
Dystonia may also affect other parts of the body, causing impaired speech and/or an abnormal gait. Other features may include epilepsy and autism spectrum disorder. [chginc.org]
Urogenital
- Renomegaly
ANALYZED: R83C, Q347X CARRIER FREQUENCY: 1 in 71 (Ashkenazi Jewish) MODE OF INHERITANCE: autosomal recessive Glycogen storage disease Type 1A (GSD1A) is a metabolic condition that when untreated, often results in severe hypoglycemia, seizures, hepato- and renomegaly [chginc.org]
Workup
Conclusion We confirm that CDG screening should be a part of the routine workup of adolescent/adult patients with sporadic or presumably autosomal recessive cerebellar ataxia, even in the absence of other suggestive signs. [ojrd.biomedcentral.com]
Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]
Treatment
Early diagnosis and treatment during infancy can improve prognosis; however, liver cirrhosis can still impact life expectancy. Treatment Treatment for CDG Type 1B involves life-long management with high doses of oral mannose therapy. [evolvegene.com]
Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.com]
Treatment with d-mannose is the only described therapy for CDG Ib. We have extablished the diagnosis in 2 patients. [adc.bmj.com]
Prognosis
Generally, the prognosis will vary depending on the severity of symptoms and their response to mannose treatment. [counsyl.com]
Common Features of the Disorder Failure to thrive during infancy Chronic diarrhea Vomiting Liver enlargement Liver disease Intestinal bleeding Prognosis Without treatment the disorder can be life threatening. [evolvegene.com]
Treatment and Prognosis To date, there are no known specific treatment options for ALG12-CDG. Treatment is aimed at the management of symptoms and the prevention of complications. Some ALG12-CDG patients die within the first years of life. [fcdgc.rarediseasesnetwork.org]
What is the prognosis for a person with Congenital Disorder of Glycosylation Type Ia? Twenty percent of people with CDG-Ia die within the first year of life, often due to infection, liver problems, or heart disease. [myriadwomenshealth.com]
Etiology
結節性硬化症 Tuberous sclerosis complex (TSC), unknown genetic etiology 結節性硬化症、遺伝子型不明 1 不要 有 HPS2395 HPS2396 HPS2397 HPS2398 HPS2399 HPS2400 159. [cell.brc.riken.jp]
Etiology and pathophysiology Etiology The etiology of INCPH is unknown [ 1, 4, 9, 14, 16 ]. [ojrd.biomedcentral.com]
Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]
The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance in acute crisis, and liver disease of unexplained etiology. [mayomedicallaboratories.com]
Epidemiology
Like many developing countries in Asia, it is passing through both demographic and epidemiological transitions whereby, at least in some parts, the diseases of severe poverty are being replaced by those of Westemisation; obesity, diabetes, and heart disease [books.google.com]
Epidemiology CDG 1a is most common, with frequency of 1 in 40,000 to 60,000 in Sweden and Denmark incidence elsewhere unknown CDG 1c next most common other than 1b, other forms so rare that is likely underdiagnosed due to nonspecific symptoms all are [emilytam.com]
Orpha number: ORPHA64743 Epidemiology Although INCPH has a worldwide distribution, it is particularly prevalent in Asia [ 4, 12, 13 ]. It is more frequent in socioeconomically disadvantaged individuals. [ojrd.biomedcentral.com]
Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]
[…] to worsening of chronic liver disease caused by hepatitis C viral infection or nonalcoholic fatty liver disease in adults, as well as cholestatic liver diseases in children. 7, 19 – 22 In the most unbiased study to date, reported by Sveger, 23 on the epidemiology [clinicalgate.com]
Pathophysiology
Etiology and pathophysiology Etiology The etiology of INCPH is unknown [ 1, 4, 9, 14, 16 ]. [ojrd.biomedcentral.com]
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome, are a group of over [mayomedicallaboratories.com]
Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]
Pathophysiology The prototypical member of the serpin family of protease inhibitors, α 1 -AT binds with and promotes the degradation of serine proteases in the serum and tissues. [clinicalgate.com]
Prevention
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Treatment is aimed at the management of symptoms and the prevention of complications. Some ALG12-CDG patients die within the first years of life. Mild cases, however, seem to have a good life expectancy. [fcdgc.rarediseasesnetwork.org]
N-linked type I forms of CDG have genetic defects that prevent the oligosaccharide building blocks from attaching to proteins as new proteins are formed. [chop.edu]
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.es]
Another important point is whether anticoagulation may have a role in the prevention of PVT. [ojrd.biomedcentral.com]