A recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioural and limb anomalies.
By: Fiona Waddell, journalist and patient
Reviewed by: Vanessa Ferreira, volunteer President and Founder APCDG (www.apcdg.com)
Posted: Friday, 01 July 2016
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ALG6-CDG, previously called CDG Ic, is a congenital disorder of glycosylation caused by a defect of the enzyme alpha1,3-glucosyltransferase. After phosphomannomutase 2-CDG (PMM2-CDG), ALG6-CDG is the second most common CDG. Eva Morava, MD, PhD, Tulane University Medical School (New Orleans, USA) and Center for Metabolic Diseases, University Hospital Leuven (Belgium. More information HERE) and her team evaluated the clinical data of 41 patients diagnosed with ALG6-CDG between 1995 and 2013 either registered by the Euroglycan database or followed by a clinician involved in Euroglycanet and participating in the reported study.
Special features included facial dysmorphism, cardiomyopathy and limb malformations were also found in several patients. Some patients had severe distal limb reduction and abnormal fat distribution was present in a few patients.
Protein Losing Enteropathy (PLE) is one of the most significant life-threatening symptom of ALG6-CDG. Four patients with PLE followed a low-fat/elementary protein diet and two patients received octreotide injections to decrease enteral protein loss. This turned out to be successful. Anaemia was common as well in ALG6-CDG patients. According to the data, most ALG6-CDG patients reached puberty and a few reached adulthood. The oldest patient was a 40-year old Dutch woman, but beceause chronic intestinal protein loss, frequent infections, hypoglycemia and hypogammaglobulinemia might lead to early mortality in young ALG6-CDG patients, prospective, regular screening of glycemia, coagluation and endocrine and liver function is necessary.
Since some children only present with hypotonia and seizures, or behavioural abnormality and speech disability, Morava and her team recommend systematic glycosylation screening in developmental disability.
Keywords: Alpha-1,3-glucosyltransferase congenital disorder of glycosylation , ALG6-CDG, Congenital Disorders of Glycosylation (CDG), Euroglycan database registration, hypotonia, developmental disability, epilepsy, increased bleeding tendency.
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