The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
| Excerpt | Reference |
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| "Biotinidase deficiency is an autosomal recessive genetic disorder which is not uncommon in the Saudi population." | ( al-Essa, MA; Archibald, A; Joshi, S; Ozand, PT, 1999) |
| "Biotinidase deficiency is a disorder of biotin metabolism." | ( Bakunowicz-Łazarczyk, A; Mrugacz, M, 2002) |
| "Biotinidase deficiency is an autosomal recessive disorder depending on the deficiency of 4 biotin-containing carboxylases." | ( Bakunowicz-Łazarczyk, A; Mrugacz, M; Sredzińska-Kita, D, 2002) |
| "Biotinidase deficiency is an inherited metabolic disorder characterized by inability to recycle protein-bound biotin." | ( Ficicioglu, C; Hoffman, TL; Simon, EM, 2005) |
| "Biotinidase deficiency is a defect in the recycling of the vitamin biotin." | ( Barshop, B; Baykal, T; Blitzer, M; Carlson, M; Chen, TH; Demir, F; Demirkol, M; Gokcay, GH; Goudie, DR; Jensen, KP; Pedro, HF; Quary, S; Shih, LY; Slonim, AE; Wolf, B, 2005) |
| "Biotinidase deficiency is a metabolic disorder characterized by inability to recycle biotin with resultant delayed myelination." | ( Desai, S; Ganesan, K; Hegde, A, 2008) |
| "Biotinidase deficiency is a reversible metabolic encephalopathy." | ( Desai, S; Ganesan, K; Hegde, A, 2008) |
| "Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay." | ( Al Hassnan, ZN; Ali, A; Chedrawi, AK; Faiyaz-Ul-Haque, M; Wolf, B, 2008) |
| "Early recognition of biotinidase deficiency is crucial to avoid permanent damage." | ( Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, T; Wang, Y; Ye, J; Zhang, HW; Zhang, YF, 2009) |
| "Biotinidase deficiency is a biotin-responsive, inherited neurocutaneous disorder." | ( Wolf, B, 2010) |
| "Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes." | ( Guthenberg, C; Holme, E; Ohlsson, A; von Döbeln, U, 2010) |
| "Biotinidase deficiency is an inherited metabolic disorder characterized by neurological and cutaneous symptoms, treated by oral administration of the vitamin biotin." | ( Buyukkayhan, D; Sancaktar, M; Tanzer, F, 2009) |
| "Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency." | ( Blitzer, M; Guo, C; Jordan, M; Matthews, N; Mock, DM; Pindolia, K; Strovel, E; Wolf, B, 2011) |
| "Biotinidase deficiency is a disorder of biotin metabolism that manifests with cutaneous, ophthalmological and neurologyical symptoms in childhood." | ( Atici, A; Ezgu, F; Komur, M; Okuyaz, C, 2011) |
| "Biotinidase deficiency is an autosomal recessively inherited neurocutaneous disorder." | ( Wolf, B, 2012) |
| "Biotinidase deficiency is an autosomal recessively inherited disorder characterized by neurological and cutaneous abnormalities." | ( Cardwell, C; Chen, J; Chopp, M; Cui, X; Pindolia, K; Wolf, B, 2012) |
| "Biotinidase deficiency is a treatable cause of infantile epilepsy and the presentation can be nonspecific." | ( Brown, R; Calvin, J; Hogg, S; Krishnakumar, D; Maw, A; Parker, AP, 2014) |
| "Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled." | ( Afroze, B; Wasay, M, 2013) |
| "Biotinidase deficiency is an autosomal recessively inherited metabolic disorder that can be easily and effectively treated with pharmacological doses of the vitamin, biotin." | ( Cardwell, C; Li, H; Pindolia, K; Wolf, B, 2014) |
| "Biotinidase deficiency is an autosomal recessively inherited metabolic disorder." | ( Wolf, B, 2016) |
| "Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin biotin and is characterized by neurological and cutaneous symptoms." | ( Mao, R; Procter, M; Wolf, B, 2016) |
| "Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form." | ( Canda, E; Eraslan, C; Gokben, S; Serdaroglu, G; Serin, M; Tekgul, H; Tekin, H; Ucar, SK; Yilmaz, S, 2017) |
| "Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin." | ( Gow, A; Maheras, KJ; Pindolia, K; Wolf, B, 2017) |
| "Diagnosis of biotinidase deficiency is rare and usually made in infancy, through newborn screening or after presenting symptoms." | ( De Zaeytijd, J; Dermaut, B; Hemelsoet, D; Laureys, G; Sindic, CJM; Sprengers, M; Van Iseghem, V; Willekens, B, 2019) |
| "Biotinidase deficiency is an inherited disorder of biotin metabolism that is untreated may present within the first few month of life." | ( Bennaoui, F; El Idrissi Slitine, N; El Moussaoui, S; Houcar, O; Maoulainine, FMR, 2020) |
| "Biotinidase deficiency is a rare condition requiring early screening and rapid management." | ( Bennaoui, F; El Idrissi Slitine, N; El Moussaoui, S; Houcar, O; Maoulainine, FMR, 2020) |
| "HLCS deficiency and BTD deficiency are characterized by neurocutaneous syndrome and organic aciduria, however, they are different in onset age, neurological symptoms and metabolic decompensation, which needed to be differentiated from acquired biotin deficiency or other genetic metabolic diseases." | ( , 2022) |
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| "Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation." | ( Baumgartner, ER; Scholl, S; Weber, P, 2004) |
| "We report a patient with biotinidase deficiency treated with biotin during pregnancy with favourable outcome." | ( Chakrapani, A; Hendriksz, CJ; Preece, MA, 2005) |
| "Four patients with biotinidase deficiency were diagnosed, treated with biotin and followed." | ( Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, T; Wang, Y; Ye, J; Zhang, HW; Zhang, YF, 2009) |
| "Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia." | ( Blitzer, M; Guo, C; Jordan, M; Matthews, N; Mock, DM; Pindolia, K; Strovel, E; Wolf, B, 2011) |
| "Patients with profound biotinidase deficiency and/or clinical signs were treated with pharmacological doses of biotin (10-30mg daily)." | ( Campistol, J; Castiñeiras, D; Couce, ML; Fraga, JM; García Cazorla, A; García Silva, MT; Martín-Hernández, E; Navarrete, R; Pérez, B; Pérez-Cerdá, C; Pineda, M; Ugarte, M, 2011) |
| "The mouse with biotinidase deficiency appears to be an appropriate animal model in which to study the neurological abnormalities and the effects of treatment of the disorder." | ( Cardwell, C; Chen, J; Chopp, M; Cui, X; Pindolia, K; Wolf, B, 2012) |
| "Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity." | ( Afroze, B; Wasay, M, 2013) |
| "Untreated children with profound biotinidase deficiency may exhibit neurological, cutaneous and cellular immunological abnormalities, specifically candida infections." | ( Cardwell, C; Li, H; Pindolia, K; Wolf, B, 2014) |
| "Individuals with biotinidase deficiency ascertained by newborn screening and treated since birth appeared to exhibit normal physical and cognitive development." | ( Conway, RL; Feldman, GL; Jay, AM; Nahhas, F; Spencer, L; Wolf, B, 2015) |
| "Untreated profound biotinidase deficiency results in a wide range of clinical features, including optic atrophy, cutaneous abnormalities, hearing loss and developmental delay." | ( Al-Dirbashi, OY; Chakraborty, P; DiRaimo, J; Gannavarapu, S; Geraghty, MT; Goobie, S; Karaceper, M; Li, L; MacKenzie, J; Munoz, T; Napier, M; Potter, M; Prasad, C; Rupar, CA; Schulze, A, 2015) |
| "If untreated, individuals with biotinidase deficiency usually develop neurological and cutaneous symptoms that can result in coma or death." | ( Wolf, B, 2016) |
| "Newborn screening for profound biotinidase deficiency and early treatment with biotin result in excellent outcomes for older adolescents and adults with the disorder." | ( Wolf, B, 2017) |
| "Neonatal screening for biotinidase deficiency is still lacking in several countries worldwide, although this neurocutaneous disorder is treatable and preventable." | ( Bassyouni, A; Daher, RT; Karam, PE; Sayegh, LN, 2020) |