"So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager".
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Adolescent↗
Biomedical subjects
Joyce E Davidson
Publications and source records attributed to Joyce E Davidson.
Tufting enteropathy and skeletal dysplasia: is there a link?
INTRODUCTION: Tufting enteropathy (intestinal epithelial dysplasia), a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. After extensive investigations including repeated gastrointestinal endoscopies and biopsies, the diagnosis of tufting enteropathy was made. During the third year of her life, the patient's height was static. A full skeletal survey was performed and demonstrated features of generalised skeletal dysplasia, some of them consistent with those of parastremmatic dwarfism. At the age of five years, she developed Coomb's positive haemolytic anaemia and thrombocytopenia with a negative auto-antibody screen including anti-enterocyte antibodies. CONCLUSION: There might be generalised matrix (including cartilage matrix protein), basement membrane abnormalities or both. A secondary protein leak might occur in the intestine with autosensitisation and development of autoimmune phenomena. More molecular research is needed to identify a possible link.
Bone Diseases, Developmental↗
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMIM 231680, ETFB; OMIM 130410), or ETF-dehydrogenase (ETFDH; OMIM 231675). This case report illustrates that GAII may present in the teenage years and may not be associated with hypoglycaemia. It outlines some important diagnostic conundrums faced in diagnosing and managing juvenile onset myopathies. Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given.
Acyl-CoA Dehydrogenase↗
Adolescent development and SLE.
Adolescence is a time of profound biological and psychosocial change. The management of a complex chronic condition such as systemic lupus erythematosus (SLE) during this period is a challenging but rewarding task for the clinician. Early diagnosis and optimal disease control is essential in order to facilitate normal adolescent development and minimize long-term disease sequelae. Current treatment regimens are associated with significant toxicity in young people, and there is a need for new, less toxic regimens. There are currently no controlled therapeutic studies in adolescents with SLE. Those involved in the care of these young people must ensure that they have appropriate access to specialist medical services while ensuring that their specific needs as adolescents in the health-care system are addressed.
Adolescent↗