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Summary
HYPERMANGANESEMIA WITH DYSTONIA 1 (HMNDYT1)
MANGANESE TRANSPORTER DFECT HMNDYT1
613280
OMIM = Online Medalian Inheritance of Men
309854
1q41
rare
autosomal recessive
mutations in the SLC30A10 gene
symptoms
cirrhosis or fibrosis of liver
dysarthria
dystonia
hepatomegaly (large liver)
macrocephaly (large calvaria, >2 SD for age)
mental retardation
onset, adulthood
onset, childhood
polycythemia
tremor or twitching
laboratory finding
Manganese0.000.00 increasedserum
MRI, brain, abnormalities -0.000.00 no unit
Literature
Perez-Cerda Cet al.2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial diseasePediatr Res583488-4912005
Struys EAet al.Mutations in phenotypically mild D-2-hydroxyglutaric aciduriaAnn Neurol584626-6302005
Madsen PPet al.Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skippingHum Genet1186680-6902006
Santos CCRoach ESGlutaric aciduria type I: a neuroimaging diagnosis?J Child Neurol207588-5902005
Aulbert W,et al.Long survival in Leigh syndrome: new cases and review of literatureNeuropediatrics456346-3532014