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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 MC1DN34
NDUFAF8
618776
OMIM = Online Medalian Inheritance of Men
---
17q25.3
very rare
autosomal recessive
mutation in the NDUFAF8 gene
symptoms
anemia
apnea
developmental delay
dysphagia
early death
encephalopathy
feeding difficulties, poor feeding
hypotonia
intrauterine growth retardation
lactic acidosis
metabolic acidosis
onset, infancy
optic atrophy
respiratory insufficiency
seizures
laboratory finding
EEG abnormalities -
L-Lactic acid mmol/lserum
Literature
Thomas A,et al.Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head traumaMetab Brain Dis332537-5442018
Ishige M,et al.Severe Acute Subdural Hemorrhages in a Patient with Glutaric Acidemia Type 1 under Recommended TreatmentPediatr Neurosurg52146-502017