Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 (MC1DN9)
NDUFS6
618232
OMIM = Online Medalian Inheritance of Men
2609
5p15.33
rare
autosomal recessive
mutation in the NDUFS6 gen
symptoms
early death
encephalopathy
eye movements, abnormal
feeding difficulties, poor feeding
hypotonia
lactic acidosis
lethargy, drowsiness, malaise or sleep disorder
nystagmus
onset, infancy
onset, neonatal
seizures
laboratory finding
L-Lactic acid mmol/lcerebrospinal fluid
L-Lactic acid mmol/lserum
Literature
Tylki-Szymanska A,Stradomska TJA newly discovered metabolic diseases due to defects in the pentose pathwayPostepy Biochem572168-1712011
Lin Y,et al.Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 geneJ Child Neurol306796-7992015
Moreno-Medinilla EE,et al.Autosomal recessive GTPCH 1 deficiency: the importance of the analysis of neurotransmitters in cerebrospinal fluidRev Neurol6211502-5062016