| SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER 6 (SLC5A6) | |
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604024
OMIM = Online Mendelian Inheritance of Men | |
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| Sodium-dependent multivitamin transporter | |
very rare (2 patients) autosomal recessiveline-height:107%;font-family:"Calibri",sans-serif;mso-ascii-theme-font:minor-latin; mso-fareast-font-family:Calibri;mso-fareast-theme-font:minor-latin;mso-hansi-theme-font: minor-latin;mso-bidi-font-family:"Times New Roman";mso-bidi-theme-font:minor-bidi; mso-ansi-language:DE;mso-fareast-language:EN-US;mso-bidi-language:AR-SA> line-height:107%;font-family:"Calibri",sans-serif;mso-ascii-theme-font:minor-latin; mso-fareast-font-family:Calibri;mso-fareast-theme-font:minor-latin;mso-hansi-theme-font: minor-latin;mso-bidi-font-family:"Times New Roman";mso-bidi-theme-font:minor-bidi; mso-ansi-language:DE;mso-fareast-language:EN-US;mso-bidi-language:AR-SA>variants in the SLC5A6font-family:"Calibri",sans-serif;mso-ascii-theme-font:minor-latin;mso-fareast-font-family: Calibri;mso-fareast-theme-font:minor-latin;mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman";mso-bidi-theme-font:minor-bidi; mso-ansi-language:DE;mso-fareast-language:EN-US;mso-bidi-language:AR-SA> gene font-family:"Calibri",sans-serif;mso-ascii-theme-font:minor-latin;mso-fareast-font-family: Calibri;mso-fareast-theme-font:minor-latin;mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman";mso-bidi-theme-font:minor-bidi; mso-ansi-language:DE;mso-fareast-language:EN-US;mso-bidi-language:AR-SA>may lead to a metabolic disorder mimicking biotinidase deficiency [Schwantje M 2019] | |
| Laboratory findings | 3-Hydroxyisovaleric acid inc (urine) 3-Hydroxyisovalerylcarnitine (C5-OH) inc (plasma) Ammonia normal/inc (blood) Phosphatase, alkaline inc (serum) Propionylcarnitine (C3) inc (plasma) Vitamin D inc (plasma) |
| Symptoms | bone fractures developmental delay diarrhea failure to thrive feeding difficulties, poor feeding hemiparesis/hemiplegia/hemiparetic cerebral palsy hyperammonemia hypoglycemia metabolic acidosis microcephaly (<2 SD for age) nystagmus onset, childhood onset, infancy osteoporosis paresis vomiting |