The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Abstract

Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspecific developmental disorders (DD). IMDs were diagnosed in 12% of individuals with causative diagnosis (177/547). There are clear benefits of using ES in DD to diagnose IMD, particularly in cases where biochemical studies are unavailable. Synopsis Exome sequencing and diagnostic rate of Inherited Metabolic Disorders in individuals with developmental disorders.

Rare Case of Biotin-Thiamine-Responsive Basal Ganglia Disease Presenting in a Neonate

“…ES harbors a high diagnostic yield of 40 to 70% in suspected cases of inherited neurometabolic diseases. 6 Our case reiterates this strength of next-generation sequencing to truncate diagnostic odysseys in patients with rare diseases. The report also stimulates us to reassess the efficacy of biotin and thiamine in early infantile forms of BTBGD.…”

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis

“…Severe neurological manifestations may be observed in the absence of monoamines and neurotransmitters. Nearly 60 cases have been described so far in the literature [Koht et al, 2014;Zahra et al, 2016;Shalash et al, 2017;Froukh, 2019;Nakagama et al, 2019;Opladen et al, 2020;Wu et al, 2020;Delanne et al, 2021]. Bonafé et al [2001] found pathogenic variants in the SPR gene in 2 cases with neurological symptoms due to SPR deficiency in 2001 [Bonafé et al, 2001].…”