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Summary
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 (MMDS6)
617954
OMIM = Online Medalian Inheritance of Men
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7q22.1
very rare
autosomal recessive
mutation in the PMPCB gen
symptoms
ataxia
cerebellar atrophy or hypoplasia
developmental delay
developmental regression
dystonia
encephalopathy
epilepsy
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hypertonia, spasticity
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
Leigh syndrome
leukoencephalopathy
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
psychomotor retardation
laboratory finding
L-Lactic acid mmol/lserum
Literature
Ohdoi C,Nyhan WL, Kuhara TChemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detectionJ Chromatogr B Analyt Technol Biomed Life Sci7921123-1302003