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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE VIII) MGCA8
617248
OMIM = Online Medalian Inheritance of Men
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2p13.1
rare
autosomal recessive
mutation in the HTRA2 gene
symptoms
apnea
bradycardia
cardiac involvement, cardiac defects
cataract
cerebral atrophy
dysphagia
dystonia
early death
feeding difficulties, poor feeding
hearing defect, deafness
hypertonia, spasticity
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
neutropenia (decreased neutrophils)
onset, neonatal
respiratory insufficiency
seizures
tremor or twitching
laboratory finding
3-Methylglutaconic acid increasedurine
L-Lactic acid normal-increasedserum
L-Lactic acid normal-increasedcerebrospinal fluid
3-Methylglutaric acid increasedurine
Literature
Jansen JC,et al.TMEM199 deficiency is a disorder of Golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylationAm J Hum Genet982322-3302016
Brown GK,et al.beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformationsPediatrics704532-5381982