Biotinidase deficiency: What have we learned in forty years?

Tankeu, Aurel T.; Winckel, Geraldine Van; Elmers, Jolanda; Jaccard, Evrim; Superti‐Furga, Andrea; Wolf, Barry; Tran, Christel

doi:10.1016/j.ymgme.2023.107560

Cited by 10 publications

(10 citation statements)

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“…( 2019 ) reported a mild decrease in biotinidase activity that remained normal in our patient. These observations support ours and we propose that the persistence of elevated and isolated urinary levels of 3‐HIA could be a red flag suggesting testing for inborn errors of metabolism as biotinidase, holocarboxylase synthetase, or SMVT deficiencies (Tankeu et al., 2023 ).…”

Section: Discussionsupporting

confidence: 88%

“…( 2022 ) went on to describe another patient who presented an acute metabolic decompensation with lactic acidosis (pH 7.1, lactate 3 mmol/L) and hypoglycemia (1.7 mmol/L). Elevated blood lactate levels are observed in case of impaired metabolization of pyruvate as reported in biotin deficiency (Hauth et al., 2022 ; Tankeu et al., 2023 ). Metabolic assessments also showed slightly elevated urinary 3‐HIA associated to elevated plasma C5‐OH‐carnitine, which is classically seen in biotinidase deficiency (Hauth et al., 2022 ; Tankeu et al., 2023 ).…”

Section: Discussionmentioning

confidence: 92%

“…Elevated blood lactate levels are observed in case of impaired metabolization of pyruvate as reported in biotin deficiency (Hauth et al., 2022 ; Tankeu et al., 2023 ). Metabolic assessments also showed slightly elevated urinary 3‐HIA associated to elevated plasma C5‐OH‐carnitine, which is classically seen in biotinidase deficiency (Hauth et al., 2022 ; Tankeu et al., 2023 ). Urinary excretion of 3‐HIA has been demonstrated to be an early and sensitive indicator of marginal biotin deficiency (Mock et al., 2011 ).…”

Section: Discussionmentioning

confidence: 92%

“…Specific treatment regimens are currently based on the regimen published by Subramanian et al. ( 2017 ) and the regimen used in biotinidase deficiency (Saleem & Soos, 2023 ; Tankeu et al., 2023 ). Holling et al.…”

Section: Discussionmentioning

confidence: 99%

“…The optimal dose of vitamin supplementation has still to be defined. Specific treatment regimens are currently based on the regimen published by Subramanian et al (2017) and the regimen used in biotinidase deficiency (Saleem & Soos, 2023;Tankeu et al, 2023). Holling et al (2022) have treated their patients with specific motor neuropathies with higher doses of biotin, pantothenic acid, and αlipoic acid leading to motor improvement.…”

Section: Discussionmentioning

confidence: 99%

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A new case of sodium‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review

Van Vyve,

Mercier,

Papadopoulos

et al. 2024

Molec Gen & Gen Med

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BackgroundBiallelic pathogenic variants in SLC5A6 resulting in sodium‐dependent multivitamin transporter (SMVT) defect have recently been described as a vitamin‐responsive inborn error of metabolism mimicking biotinidase deficiency. To our knowledge, only 16 patients have been reported so far with various clinical phenotypes such as neuropathy and other neurologic impairments, gastro‐intestinal dysfunction and failure to thrive, osteopenia, immunodeficiency, metabolic acidosis, hypoglycemia, and recently severe cardiac symptoms.MethodsWe describe a case report of a 5‐month‐old girl presenting two recurrent episodes of metabolic decompensation and massive cardiac failure in the course of an infectious disease. We compare clinical, biological, and genetic findings of this patient to previous literature collected from Pubmed database (keywords: Sodium‐dependent multivitamin transporter (SMVT), SMVT defect/disorder/deficiency, SLC5A6 gene/mutation).ResultsWe highlight the life‐threatening presentation of this disease, the stagnation of psychomotor development, the severe and persistent hypogammaglobulinemia, and additionally, the successful clinical response on early vitamin supplementation (biotin 15 mg a day and pantothenic acid 100 mg a day). Metabolic assessment showed a persistent increase of urinary 3‐hydroxyisovaleric acid (3‐HIA) as previously reported in this disease in literature.ConclusionSMVT deficiency is a vitamin‐responsive inborn error of metabolism that can lead to a wide range of symptoms. Increased and isolated excretion of urinary 3‐hydroxyisovaleric acid may suggest, in the absence of markedly reduced biotinidase activity, a SMVT deficiency. Prompt supplementation with high doses of biotin and pantothenic acid should be initiated while awaiting results of SLC5A6 sequencing as this condition may be life‐threatening.

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Section: Discussionsupporting

confidence: 88%