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Summary
SOLUTE CARRIER FAMILY 5 (SODIUM-DEPENDENT VITAMIN TRANSPORTER), MEMBER 6 (SLC5A6)
604024
OMIM = Online Medalian Inheritance of Men
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2p23.3
very rare (2 patients)
autosomal recessiveline-height:107%font-family:"Calibri",sans-serifmso-ascii-theme-font:minor-latin
mso-fareast-font-family:Calibrimso-fareast-theme-font:minor-latinmso-hansi-theme-font:
minor-latinmso-bidi-font-family:"Times New Roman"mso-bidi-theme-font:minor-bidi
mso-ansi-language:DEmso-fareast-language:EN-USmso-bidi-language:AR-SA>
line-height:107%font-family:"Calibri",sans-serifmso-ascii-theme-font:minor-latin
mso-fareast-font-family:Calibrimso-fareast-theme-font:minor-latinmso-hansi-theme-font:
minor-latinmso-bidi-font-family:"Times New Roman"mso-bidi-theme-font:minor-bidi
mso-ansi-language:DEmso-fareast-language:EN-USmso-bidi-language:AR-SA>variants
in the SLC5A6
font-family:"Calibri",sans-serifmso-ascii-theme-font:minor-latinmso-fareast-font-family:
Calibrimso-fareast-theme-font:minor-latinmso-hansi-theme-font:minor-latin
mso-bidi-font-family:"Times New Roman"mso-bidi-theme-font:minor-bidi
mso-ansi-language:DEmso-fareast-language:EN-USmso-bidi-language:AR-SA> gene
font-family:"Calibri",sans-serifmso-ascii-theme-font:minor-latinmso-fareast-font-family:
Calibrimso-fareast-theme-font:minor-latinmso-hansi-theme-font:minor-latin
mso-bidi-font-family:"Times New Roman"mso-bidi-theme-font:minor-bidi
mso-ansi-language:DEmso-fareast-language:EN-USmso-bidi-language:AR-SA>may lead to a metabolic disorder mimicking biotinidase deficiency [Schwantje M 2019]
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
vomiting
laboratory finding
Phosphatase, alkaline U/lserum
3-Hydroxyisovalerylcarnitine (C5-OH) +€mol/lplasma
Propionylcarnitine (C3) +€mol/lplasma
3-Hydroxyisovaleric acid mmol/mol Creaurine
Ammonia +€mol/lblood
Vitamin D3, 1,25-Hydroxyvitamin D +€mol/lplasma
Literature
Jawad AF,et al.Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)J Pediatr1395715-7232001
McDonald-McGinn DM,et al.22q11.2 deletion syndromeNat Rev Dis Primers1050712015
Hac-¦hamdioglu B,et al.22q11 deletion syndrome: current perspectiveAppl Clin Genet80123-1322015