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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
intellectual disability/intellectual developmental disorder (ID/ IDD)
muscle weakness
myopia
neuropathy
night blindness
onset, adolescent
onset, childhood
retinitis pigmentosa
seizures
laboratory finding
Ornithine20.00100.000.0013.00mmol/mol creatinineurine
L-Glutamine 333.00809.00decreasedplasma
L-Glutamic acid 14.0078.00decreasedplasma
Ornithine600.00900.0036.0096.00-Ámol/lplasma
Ornithine20.0060.001.906.90-Ámol/lcerebrospinal fluid
L-Lysine 66.00270.00decreasedplasma
Ornithine-delta-aminotransferase0.005.00 100.00% of normalfibroblasts
2-Aminopiperid-2-one 0.000.00increasedurine
Arginine0.000.003.0011.00increasedurinechildhood
L-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