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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) MTDPS4B
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, POLG-RELATED
613662
OMIM = Online Medalian Inheritance of Men
298
15q26.1
rare
autosomal recessve
mutation in the POLG gene
symptoms
ataxia
cachexia
constipation
developmental delay
gastrointestinal dysmotility
hearing defect, deafness
hypotonia
liver involvement or dysfunction
malabsorption
muscle weakness
neuropathy
onset, childhood
onset, infancy
onset, neonatal
ophthalmoplegia
pain, abdominal
seizures
weight loss
laboratory finding
MRI, brain, abnormalities -
L-Lactic acid normal-increasedblood
Literature
Pollard LM,et al.Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiencyJ Child Neurol258954-9602010
Yamada K,et al.Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric casesBrain Dev383293-3012016
Prasad M,Hussain SGlutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenagerJ Child Neurol30196-992015
Isasi E,et al.Increased blood-brain barrier permeability and alterations in perivascular astrocytes and pericytes induced by intracisternal glutaric acidFluids Barriers CNS110152014
Yamada K,et al.Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assayBrain Dev39148-572016