Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [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]

Index case in that family had been tested: 100% for the multisystem presentation, and around 50% for the congenital myasthenic syndrome presentation. [nature.com]

Vaginal delivery occurred, despite of breech presentation. He presented with severe hypotonia and generalized convulsions. Brain MRI at the age of 5 days was normal. [ojrd.biomedcentral.com]

• Failure to Thrive

  Constitutionally, patients commonly have failure to thrive due to feeding and GI abnormalities and global developmental delay. [ncbi.nlm.nih.gov]

  It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. [checkrare.com]

  The diagnosis should be considered in all patients with failure to thrive, mental retardation, cerebellar hypoplasia, liver dysfunction, or stroke-like episodes. [egl-eurofins.com]

  Additionally, these individuals have severe failure to thrive after birth. [themedicalbiochemistrypage.org]

  The other two patients had facial dysmorphism; one presented also failure to thrive, cataract, myopathy and increased level of CK, and factor VIII. [omicsonline.org]

• Hyperreflexia

  […] have these symptoms is not available through HPO Abnormality of coagulation Abnormal blood clotting 0001928 Autosomal recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia [rarediseases.info.nih.gov]

Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. Results: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy. [n.neurology.org]

• Hypsarrhythmia

  […] through HPO Abnormality of coagulation Abnormal blood clotting 0001928 Autosomal recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia Increased reflexes 0001347 Hypsarrhythmia [rarediseases.info.nih.gov]

Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]

A polysaccharide immunomodulator with therapeutic implications, carbohydrate vaccines, new findings emphasizing the influence of carbohydrate decoration on the regulation of inflammatory response and new therapeutic approaches in the treatment of acute [books.google.ro]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It will be interesting to see how the findings from Lee et al. will lead to better prognoses and treatments for PGM1 deficiency. In the meantime, Tegtmeyer et al. 5 have already tested out a treatment for the disease. [sulab.org]

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency. [ncbi.nlm.nih.gov]

Prognosis - CDG syndrome type 2 Not supplied. Treatment - CDG syndrome type 2 Not supplied. Resources - CDG syndrome type 2 Not supplied. [checkorphan.org]

Prognosis Infections in LAD-II are rarely life-threatening and thus patients may live to adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]

Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [ncbi.nlm.nih.gov]

Etiology LAD-II is a carbohydrate-deficient glycoprotein syndrome (CDG syndrome; see this term) and is therefore also referred to as CDG IIc. [orpha.net]

The diagnosis of CDGs should be suspected in cases with neurological signs and symptoms of unknown etiology, or in any patient with multisystemic disease even in the absence of neurological features. [clinicaltrials.gov]

Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [ncbi.nlm.nih.gov]

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]

Johnson, Lambro A. et al. (2013): BMI but not stage or etiology of nonalcoholic liver disease affects the diagnostic utility of carbohydrate-deficient transferrin. Alcoholism, clinical and experimental research 37 (10), S. 1771–1778. [med4you.at]

[…] data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: no data available [csbg.cnb.csic.es]

Summary Epidemiology LAD-II is extremely rare: less than 10 cases have been reported so far. Clinical description The first signs usually occur in infancy or early childhood. [orpha.net]

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. [ncbi.nlm.nih.gov]

He is working in the field of CDG since 1999 and is interested in pathophysiological aspects of glycosylation deficiencies. [for2509.de]

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. [ncbi.nlm.nih.gov]

Others, such as muscle-eye-brain disease and Walker–Warburg syndrome, were well known, but elucidation of their relation to glycosylation has provided new insights into their pathophysiology and opens possibilities for therapy. [clinicalgate.com]

However, more work is needed to pinpoint the exact function of MAN1B1 in glycoprotein quality control, and to understand the pathophysiology of its deficiency. [journals.plos.org]

Prevention - CDG syndrome type 2 Not supplied. Diagnosis - CDG syndrome type 2 Not supplied. Prognosis - CDG syndrome type 2 Not supplied. Treatment - CDG syndrome type 2 Not supplied. Resources - CDG syndrome type 2 Not supplied. [checkorphan.org]

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.ro]

Health concerns can be decreased through preventative medicine with appropriate nutrition and scheduled immunizations. Doctors and scientists are working to find and create more specific treatments for CDG. CDG CARE supports these research efforts. [cdgcare.com]