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Summary
HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA)
ORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA GYRATE ATROPHY OF THE CHOROID AND RETINA
258870
OMIM = Online Medalian Inheritance of Men
414
10q26.13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • amino acid mixture
  • low-arginine diet
  • low-protein diet
  • lysine
  • Vitamin B6 (pyridoxine)
rare 150 cases, 50% Finland
autosomal recessive
4 affected siblings out of 5 in a turkish family known to the authors (not published)
symptoms
alopecia
blindness, visual loss, visual impairment
cataract
chorioretinitis
muscle weakness
myopia
night blindness
onset, adolescent
onset, childhood
retinitis pigmentosa
laboratory finding
Ornithine20.00100.000.0014.00mmol/mol creatinineurine
Glutamine 246.001182.00decreasedplasma
Glutamic acid, Glutamate 10.00133.00decreasedplasma
Ornithine600.00900.0027.00103.00-Ámol/lplasma
Ornithine20.0060.001.906.90-Ámol/lcerebrospinal fluid
Lysine 48.00284.00decreasedplasma
Ornithine-delta-aminotransferase0.005.00 100.00% of normalfibroblasts
2-Aminopiperid-2-one 0.000.00increasedurine
Arginine0.000.003.0011.00increasedurinechildhood
Lysine 10.0069.00increasedurine
MRI, muscle, abnormalities -
muscle, biopsy, abnormal
EEG abnormalities -
EMG abnormalities -
Literature
Migeon CJet al.The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six casesPediat Res20501-5131968
Yi SH,Singh RHProtein substitute for children and adults with phenylketonuriaCochrane Database Syst Rev202015
Bakker HDet al.Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?Eur J Hum Genet9291-962001
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
Kashtan CEAlport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranesMedicine (Baltimore)785338-3601999
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Strisciuglio P,Concolino DNew Strategies for the Treatment of Phenylketonuria (PKU)Metabolites441007-10172014
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991