Visit Metagene.de!
Summary
MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (MMLA)
251950
OMIM = Online Medalian Inheritance of Men
2597
7q31.1
very rare
autosomal recessive
mutation in the PNPLA8 gene
symptoms
defect of walking, running, rising or climbing
dysarthria
dysmetria
dystonia
fatigue, severe or unusual
hypertonia, spasticity
lactic acidosis
muscle weakness
onset, infancy
progressive neurologic defect
seizures
laboratory finding
L-Lactic acid mmol/lserum
Pyruvic acid mmol/lserum
Literature
Horvath GA,et al.Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive formsMol Genet Metab941127-1312008
Yum MS,et al.Autosomal-dominant guanosine triphosphate cyclohydrolase I deficiency with novel mutationsPediatr Neurol385367-3692008