Diagnosis and management of symptomatic profound biotinidase deficiency in a tertiary care center in Lebanon

Sayegh, Lea N.; Daher, Rose T.; Bassyouni, Amina; Karam, Pascale E.

doi:10.1016/j.clinbiochem.2020.09.008

Cited by 2 publications

(2 citation statements)

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“…Without sufficient biotinidase, biotin cannot be recycled, which www.nsj.org.sa leads to the accumulation of toxic compounds in the body. 14 It can present with various neurological symptoms, including hypotonia, seizures, alopecia, skin rash, visual impairment, and hearing loss. Multiple types of seizures were observed, including tonic, myoclonic, and spasms.…”

Section: Pyridoxine-dependent Epilepsy (Pde)mentioning

confidence: 99%

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Treatable inherited metabolic epilepsies

Hundallah

Tabarki

2021

NSJ

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Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome.

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Section: Pyridoxine-dependent Epilepsy (Pde)mentioning

confidence: 99%

“…Screening for biotinidase deficiency is included in the national screening program in Saudi Arabia. 14,15 Glut-1 deficiency. Glut-1 deficiency is a treatable disorder caused by impaired glucose uptake at the blood-brain barrier.…”

Section: Pyridoxine-dependent Epilepsy (Pde)mentioning

confidence: 99%