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Summary
RIBOSE-5-PHOSPHATE ISOMERASE DEFICIENCY
608611
OMIM = Online Medalian Inheritance of Men
440706
2p11.2
rare
autosomal recessive
mutation in the RPIA gene
symptoms
ataxia
encephalopathy
hypertonia, spasticity
leukoencephalopathy
mental retardation
motor retardation
neuropathy
nystagmus
optic atrophy
peripheral neuropathy
psychomotor retardation
seizures
laboratory finding
MRS, brain, abnormalities -
Ribitol increasedbody fluids
D-Arabitol increasedbody fluids
Ribitol0.000.00 increasedurineno data
L-Xylulose increasedurine
Literature
Blau Net al.Primapterinurina: a new variant of atypical phenylketonuriaJ Inher Met Dis Suppl122335-3381989
Hickmann FH,et al.Uncoupling, metabolic inhibition and induction of mitochondrial permeability transition in rat liver mitochondria caused by the major long-chain hydroxyl monocarboxylic fatty acids accumulating in LCHAD deficiency.Biochim Biophys Acta18476602-6282015
Polinati PP,et al.Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.Invest Ophthalmol Vis Sci5653371-33822015