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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE III)
COSTEFF SYNDROME OPTIC ATROPHY PLUS SYNDROMEMGA3
258501
OMIM = Online Medalian Inheritance of Men
67047
19q13.2-13.3
rare
autosomal recessive
mutation in the OPA3 gene
Most of the patients are of Iraqi-Jewish origin, mutation in the OPA3 gene was identified.
symptoms
ataxia
chorea or athetosis
dysarthria
extrapyramidal signs
hyperreflexia
mental retardation
neurological deterioration
nystagmus
onset, infancy
optic atrophy
Organic acids, urine
spastic diplegia/quadriplegia
speech development, delayed, abnormal
laboratory finding
3-Methylglutaconic acid 0.009.00increasedurine
3-Methylglutaric acid 0.007.00increasedurine
MRI, brain, abnormalities -0.000.00 urine
Literature
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Ricci Bet al.A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemiaJ Biol Chem270014281-51995
Lane ABJenkins THuman L-xylulose reductase variation: family and population studiesAnn Hum Genet490227-2351985
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Loreal Oet al.Aceruloplasminemia: new clinical, pathophysiological and therapeutic insightsJ Hepatol366851-8562002
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Lei KJet al.Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type IaJ Biol Chem270011882-61995
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Pappu ASIllingworth DRDiurnal variations in the plasma concentrations of mevalonic acid in patients with abetalipoproteinemiaEur J Clin Invest2410698-7021994
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Lane ABOn the nature of L-xylulose reductase deficiency in essential pentosuriaBiochem Genet23061-721985
Lei KJet al.Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type IaJ Clin Invest9351994-19991994
Soyama KFurukawa NA Japanese case of pentosuriaJ Inherit Metab Dis81371985
Hayasaka K2-Ketoadipic dehydrogenase deficiency (2-ketoadipic acidemia)Ryoikibetsu Shokogun Shirizu180336-3371998
Suzuki SEssential pentosuriaRyoikibetsu Shokogun Shirizu00104-1061998