HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA, OAT)

Question 1

What is  HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA, OAT)?

Accepted Answer

rare (150 cases, 50% Finland)
autosomal recessive
mutation in the OAT gene
4 affected siblings out of 5 in a turkish family known to the authors (not published)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperornithinämie; Ornithin-Aminotransferase-Mangel; Atrophia gyrata der Aderhaut und Netzhaut; HOGA

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 258870

Question 4

Which enzymes are involved?

Accepted Answer

Ornithine aminotransferase, mitochondrial

Disease	HYPERORNITHINEMIA WITH GYRATE ATROPHY (HOGA, OAT)
Synonym	ORNITHINEMIA WITH GYRATE ATROPHY OF CHOROID AND RETINA; GYRATE ATROPHY OF THE CHOROID AND RETINA
OMIM	258870 OMIM = Online Mendelian Inheritance of Men
Orphanet	414
Protein (UniProt)	Ornithine aminotransferase, mitochondrial
ExPASy	2.6.1.13
Gene locus	10q26.13 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Ornithine aminotransferase
ICD	E72.4
Summary	rare (150 cases, 50% Finland) autosomal recessive mutation in the OAT gene 4 affected siblings out of 5 in a turkish family known to the authors (not published)
Laboratory findings	Ornithine inc (urine) Ornithine inc (plasma) 2-Aminopiperid-2-one inc (urine) Arginine inc (urine) Creatine dec (urine) Creatine dec (plasma) Creatinine normal/dec (plasma) Glutamic acid dec (plasma) Glutamine dec (plasma) Guanidinoacetic acid / Guanidinoacetate dec (plasma) Guanidinoacetic acid / Guanidinoacetate dec (urine) L-Lysine inc (urine) L-Lysine dec (plasma) Ornithine inc (cerebrospinal fluid) Ornithine-delta-aminotransferase dec (fibroblasts)
Symptoms	Atrophy, gyrate of choroid and retina blindness, visual loss, visual impairment cataract Chorioretinal degeneration EEG abnormalities [-] intellectual disability/intellectual developmental disorder muscle weakness myopia neuropathy alopecia chorioretinitis EMG abnormalities [-] MRI, muscle, abnormalities [-] muscle, biopsy, abnormal night blindness onset, adolescent onset, childhood retinitis pigmentosa seizures white matter changes, abnormalities