Posts By: Hilary Vernon

Cysteamine therapy in nephropathic cystinosis

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Cysteamine therapy is most effective in nephropathic  cystinosis when started early in life. However, a recent study by Brodin-Sartorius points out that there are still clinical improvements seen if this therapy is initiated in older children.  They found that initiating therapy <5 years of age significantly improved renal, diabetes, and thyroid outcome. However in chldren starting therapy after […]

Sudden Bilateral Vision Loss in Methylmalonic Acidemia

Posted by & filed under Part 09: ORGANIC ACIDS.

A recent case report by Traber et al in the Journal of Neuroopthalmology (August 25, 2011 Epub) describes an adult patient with methylmalonic acidemia (MMA) and sudden onset of bilateral vision loss with optic atrophy.  This may not be commonly though of as a frequent adult complication of MMA. However, this sudden onset of vision loss has been described before in adults […]

Ketolytic Disorders

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We had a recent discussion in our clinical case conference today about an adolescent with recurrent hyperketotic and occasionally hypoglycemic episodes. It was a reminder that there can be difficulty in making a biochemical diagnosis in disorders of ketolysis, due to the lack of  or intermittent nature of pathogonomic organic acid and acylcarnitine profiles. A thorough review […]

Defective phosphatidylcholine biosynthesis and muscular dystrophy

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Several individuals with congenital muscular dystrophy were recently described to have mutations in the gene encoding for choline kinase beta, inherited in an autosomal recessive manner. This is the first enzymatic step in a de novo biosynthetic pathway for phosphatidylcholine. Pathological features include intellectual disability, muscle wasting, and enlarged mitochondria on muscle biopsy. A mouse […]

Disorders of selenium metabolism

Posted by & filed under Part 14: METALS.

A review of  disorders of selenium metabolism and selenoproteins was recently publised in Current Opinion in Pediatrics. It includes up to date descriptions of SECISBP2 syndrome, causing thyroid dysfunction and growth retardation, and SEPSECS mutations causing progressive cerebellar and cerebral atrophy. Other abnormalities seen in impaired selenium metabolism include impaired muscle function, and immune deficits. (Schweizer et al, Current Opinion […]