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Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders
Joint Authors
Abd al-Khaliq, Hibah S.
al-Sayyid, Sulaf M.
Jamal, Radwah
Zaki, Usamah K.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 3 (31 Jul. 2016), pp.247-250, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Neurometabolic disorders are a group of inborn errors of metabolism where neurological symptoms predominate especially convulsions which are usually resistant to antiepileptic drugs.
Other symptoms include poor feeding, vomiting, lethargy, seizures, and loss of consciousness.
Because of the nonspecific overlapping symptoms, confirming the diagnosis depends mainly on the specific investigation that is done in highly specialized laboratories.
The clinical picture can be more complicated in the presence of two diseases in the same family and more difficult if present in the same patient.
This is not extremely rare in countries with high prevalence of consanguineous marriage like Egypt.
The situation is more complicated when we add the lack of specific investigations, metabolic specialized labs and the deficiency of documentation.
In this case report, we present the challenges that we met in diagnosis and counseling of a family with both Tay–Sachs and maple syrup urine disease depending mainly on history, clinical data and a few diagnostic investigations.
American Psychological Association (APA)
Abd al-Khaliq, Hibah S.& Jamal, Radwah& Zaki, Usamah K.& al-Sayyid, Sulaf M.. 2016. Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 3, pp.247-250.
https://search.emarefa.net/detail/BIM-734010
Modern Language Association (MLA)
Abd al-Khaliq, Hibah S.…[et al.]. Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 3 (Jul. 2016), pp.247-250.
https://search.emarefa.net/detail/BIM-734010
American Medical Association (AMA)
Abd al-Khaliq, Hibah S.& Jamal, Radwah& Zaki, Usamah K.& al-Sayyid, Sulaf M.. Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 3, pp.247-250.
https://search.emarefa.net/detail/BIM-734010
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 250
Record ID
BIM-734010