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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE IX) MGCA9
617698
OMIM = Online Medalian Inheritance of Men
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rare
autosomal recessive
mutation in the TIMM50 gene
symptoms
behavior. aggressive
cerebral atrophy
defect of walking, running, rising or climbing
failure to thrive
hyperreflexia
hypertonia, spasticity
hypoplasia of optic nerve or disk
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
lactic acidosis
muscle weakness
onset, infancy
seizures
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities -
EEG abnormalities -
3-Methylglutaconic acid increasedurine
L-Lactic acid increasedserum
Literature
Jansen JC,et al.CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationAm J Hum Genet982310-3212016