Symptoma

Hyperornithinemia

HOGA

A metabolic study in a case of hyperornithinemia with gyrate atrophy of choroid and retina is presented. It is demonstrated that the lysine-ornithine antagonism is a physiological, safe, easy to handle therapeutic tool in hyperornithinemia. [ncbi.nlm.nih.gov]

Individuals with this disorder can present with symptoms during infancy, but the majority present during adulthood. [sema4genomics.com]

RESULTS:: An 18-year-old Indian boy presented with progressive diminution of vision, night blindness, lenticular opacities, and midperipheral chorioretinal atrophy. [biomedsearch.com]

  • Prolonged Bleeding

    Prolonged bleeding after the cleft palate repair at age 15 months was noted, prompting further investigations, which revealed that the INR was 5.4 and activated partial thromboplastin time was 88 seconds. [journals.lww.com]

  • Food Intolerance

    The clinical manifestations and the age at onset of the syndrome are highly variable, ranging from protein-rich food intolerance, vomiting, and neurological signs such as lethargy, coma, seizures, progressive spastic paraparesis, and mental retardation [journals.lww.com]

  • Blurred Vision

    Adults with the disorder present with vomiting, lack of energy, coordination difficulties, confusion, and blurred vision after eating high-protein meals or during stressful times. [sema4genomics.com]

  • Ptosis

    Pallavi Raj Related Documents : 25160549 - Paroxysmal alpha activity in rett syndrome: a case report. 25455949 - Holt-oram syndrome: a case report. 25388409 - Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome. 9392009 - Hereditary ptosis [biomedsearch.com]

  • Tingling

    This is termed as tunnel vision Near vision or shortsightedness (myopia) Some individuals may have neuropathy affecting the peripheral nerves, resulting in symptoms such as numbness, tingling sensation, needle prick pain in the hands/feet Some individuals [dovemed.com]

These two cases demonstrate that metabolic profiling, including the ammonia level, should be included in the initial workup for any infant with unexplained prolonged liver dysfunction and may provide a clue to a possible underlying defect in the urea [hkmj.org]

As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. [books.google.de]

Some children still have high ammonia levels in their blood even with treatment. These individuals may need to seek treatment in a hospital to remove the ammonia from their blood. [babysfirsttest.org]

A prompt diagnosis of HHH syndrome proved of great importance in instituting appropriate treatment. [journals.lww.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

(Outcomes/Resolutions) The prognosis of Gyrate Atrophy of Choroid and Retina depends upon the severity of the signs and symptoms, which may vary from mild to severe In some cases, with appropriate treatment, an excellent prognosis is achieved; intellectual [dovemed.com]

Prognosis - Hyperornithinemia Not supplied. [checkorphan.org]

The prognosis of the disorder is variable; some affected individuals only have mild neurocognitive impairment while others will continue to progressively worsen despite early detection and metabolic control. [sema4genomics.com]

Prognosis of HHH syndrome is variable, ranging from a severe course with disabling manifestations to milder variants compatible with an almost normal life. [springermedizin.de]

(Etiology) Gyrate Atrophy of Choroid and Retina is a genetic disorder that is inherited in an autosomal recessive manner. It is classified as a type of choroidal dystrophy. [dovemed.com]

Relevant External Links for SLC25A15 Genetic Association Database (GAD) SLC25A15 Human Genome Epidemiology (HuGE) Navigator SLC25A15 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC25A15 No data available for Genatlas for SLC25A15 Gene [genecards.org]

Epidemiology: There are more than 150 biochemically-documented cases known, with the highest rate in Finland (2). [path.upmc.edu]

The pathophysiological repercussions of our results as well as the recommendations for conscientious therapeutical management are discussed. [infona.pl]

For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995). [books.google.de]

Pathophysiology Ornithine translocase deficiency has an autosomal recessive pattern of inheritance. Mutations in the SLC25A15 gene cause ornithine translocase deficiency. [dict.eudic.net]

Pathophysiology [ edit ] Ornithine translocase deficiency has an autosomal recessive pattern of inheritance. Mutations in SLC25A15 cause ornithine translocase deficiency. [en.wikipedia.org]

Early intervention allows almost normal life span but the prognosis is variable, suggesting the need for a better understanding of the still unsolved pathophysiology of the disease. Zusatzmaterial Additional file 1: Table S1. [springermedizin.de]

Overview A very rare inherited metabolic disorder where ammonia builds up in the body due to a defect in the transport of ornithine which prevents ammonia being converted to urea and being excreted through the urine. [checkorphan.org]

[…] pterygium syndrome. 9392009 - Hereditary ptosis of late onset: early observations on oculopharyngeal muscular dystrop... 25399959 - Giant clinodactyly and macrodactyly of the hand associated with carpal tunnel syndrome. 23533239 - Vitamin d levels for preventing [biomedsearch.com]

Ammonium-induced impairment of axonal growth is prevented through glial creatine. J Neurosci. 2002;22:9810–20. PubMed 79. Viegas CM, Zanatta A, Knebel LA, Schuck PF, Tonin AM, Ferreira Gda C, et al. [springermedizin.de]

Images