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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 COXPD6
ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
300816
OMIM = Online Medalian Inheritance of Men
238329
Xq26.1
rare
X-linked recessive
mutation in the AIFM1 gene
symptoms
areflexia
decreased spontaneous movements
developmental regression
early death
hyporeflexia
hypotonia
lactic acidosis
muscle atrophy
muscle weakness
neuropathy
onset, infancy
psychomotor regression
psychomotor retardation
respiratory insufficiency
seizures
laboratory finding
Lactic acid increasedserum
MRI, brain, abnormalities -
Lactic acid increasedcerebrospinal fluid
Pyruvic acid increasedcerebrospinal fluid
Pyruvic acid increasedserum
Literature
Yi H,et al.Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene TherapyHum Gene Ther283286-2942017
Koo B,Oskarsson BPhosphoglycerate mutase deficiency (glycogen storage disease X) caused by a novel variant in PGAM-MNeuromuscul Disord2610688-6902016
Joshi PR,et al.Phosphoglycerate mutase deficiency: case report of a manifesting heterozygote with a novel E154K mutation and very late onsetActa Neuropathol1176723-7252009
DiMauro S,et al.Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathyScience21245001277-12791981
Lee K,et al.Neural correlates of adaptive working memory training in a glycogen storage disease type-IV patientAnn Clin Transl Neurol43217-2222017
Salameh J,et al.Phosphoglycerate mutase deficiency with tubular aggregates in a patient from PanamaMuscle Nerve471138-1402013