Posted May 30th, 2016 by Nicola Brunetti-Pierri & filed under Exome sequencing, Part 06: DIAGNOSTIC APPROACHES.

Therapies are becoming increasingly avaible for inborn errors of metabolism making diagnosis of these disorders particularly improtant.

The New England Journal of Medicine recently published a study on whole-exome sequencing in 41 patients resulting in a diagnosis in 28 of them (68%) and a targeted intervention in 18 of them (44%).

The relatively high diagnostic yield found in this study may stem from the inclusion criterion of a metabolic phenotype, defined as one or more of the following: a pattern of abnormal metabolites in urine, blood, or cerebrospinal fluid; abnormal results on functional studies at a biochemical or cellular level (e.g., a deficiency in the mitochondrial-respiratory-chain complex); or abnormalities on clinical history (e.g., developmental or cognitive regression), physical examination (e.g., organomegaly), neuroimaging or physiological analysis (e.g., leukodystrophy), or pathological analysis (e.g., storage vacuoles) suggestive of a neurometabolic disorder.

Moreover, the study led to the identification of 11 candidate genes newly implicated in neurometabolic diseases.

Posted by Nicola Brunetti-Pierri