Congenital disorders of glycosylation – an umbrella term for rapidly expanding group of rare genetic metabolic disorders – importance of physical investigation

Abstract

AIM: Congenital disorders of glycosylation (CDG) belong to an expanding group of rare genetic metabolic disorders caused by defects in the complex chemical enzymatic process of glycosylation. The study is aimed at presenting a case report of a premature dysmorphic newborn, clinical presentation of the condition, the way it was diagnosed and treated, as well as its comparison with the known cases. RESULTS: The result of glycan analysis supports the assumption of a supposed glycosylation disorder and also specifi es a specifi c subtype: CDG-1, subtype ALG12-CDG (Ig). CONCLUSION: CDG have an extremely wide clinical spectrum and should be considered in any child with unexplained developmental delay, failure to thrive, seizures, and abnormalities in liver enzymes, coagulation and immunologic factors. The treatment of most forms of CDG depends upon numerous factors such as specifi c symptoms present, severity of the disorder, age and overall health of the patients and tolerance to certain medications or procedures. For these reasons, the treatment is specifi c for every individual. It is based on the symptoms and requires a coordination of efforts of a team of specialists (Tab. 4, Fig. 3, Ref. 19).

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum

“…Our study reports a case of a dysmorphic male born prematurely, after a complicated pregnancy, as a second child from binovular twins. Comprehensive clinical phenotype was described separately (Lekka et al, 2021 ). Newborn screening for cystic fibrosis was repeatedly false positive.…”

“…Comprehensive clinical phenotype was described separately (Lekka et al, 2021). Newborn screening for cystic fibrosis was repeatedly false positive.…”

Rate-Limiting Enzymes in Cardiometabolic Health and Aging in Humans

“…GWAS are a ubiquitous research vehicle to identify common genetic variants linked to any within a wide spectrum of phenotypes [28]. We believe our observations that genes encoding 114 different RLEs also carry variants that associate with any of five MetS-defining outcomes plus LDL-C contribute to characterizing the mechanism of the observed association in two ways.…”

“…This is precisely what we observed: 53 of 369 IMD loci encode an RLE. Yet, evaluating the full extent of the overlap between RLEs and IMD genes is difficult because a complete IMD set has not been established [28]. In parallel, we tabulated a moderately significant reduction in RLEs exhibiting age-related altered expression in blood versus the expected (11 observed, 17 expected).…”

New Insights and Potential Therapeutic Interventions in Metabolic Diseases

“…Diabetes, which affects between 5% and 20% of the population [ 39 , 40 , 41 ], and metabolic syndrome [ 42 , 43 , 44 ] are examples of these diseases. While metabolic diseases in some cases have a genetic origin [ 45 ], they can also be caused by environmental factors such as diet and sedentary lifestyles [ 25 ], high levels of stress [ 46 , 47 , 48 ], and/or disrupted sleep patterns [ 49 , 50 ].…”