A RARE CASE WITH SHORT CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (SCHAD) WITH SYMPTOM OF CARDIAC INVOLVEMENT

Q: How can I download an article?

To download an article from SID, first log in to the site, search for the article title, and click on the 'Download Article' option.

Q: How can I download an ISI article?

To download an ISI article on SID, enter the keyword or article title in the search bar, view the relevant results, click on the desired article, and select the 'Download Article' option.

Q: How can I access the SID database?

To access the SID database, visit SID.ir, create an account, and log in to access scientific resources.

Q: Is downloading articles from SID free?

Some articles on SID are available for free, while others require payment. Details are specified on the article's page.

MOHAMMADI M.; ALIJANPOUR M.; KHODABAKHSH E.; REZAPOUR M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS) Year:2013 | Volume:15 | Issue:4 Page(s): 115-119

Download Full-Text

Persian Verion

View:

1,447

Download:

Cites:

Information Journal Paper

Title

A RARE CASE WITH SHORT CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (SCHAD) WITH SYMPTOM OF CARDIAC INVOLVEMENT

Author(s)

MOHAMMADI M. | ALIJANPOUR M. | KHODABAKHSH E. | REZAPOUR M. | Issue Writer Certificate

Keywords

SCHADQ2

METABOLIC DISEASEQ3

HYPOGLYCEMIAQ2

CARDIOMEGALYQ2

Abstract

BACKGROUND AND OBJECTIVE: Short-Chain L-3 Hydroxyacyl-CoA Dehydrgenase deficiency may be presented in years after birth and sometimes lead to patients mortality. According to importance of nonspecific symptoms of disease and early progression that due to patient's life-threatening we decided to report clinical and biochemical manifestation of patient with SCHAD deficiency and with symptom of cardiac involvement.CASE: A 15 year old child with respiratory distress and loss of consciousness was admitted to the PICU. Patients had a history of intermittent vomiting and early fatigue during normal activity from 2 years ago. The development had been normal until now. Lab data revealed severe metabolic acidosis and in echocardiography hypertrophic cardiomyopathy, due to previous dilated cardiomyopathy with EF: 25-30% and severe dysfunction of both ventricles were reported. The patient was intubated on the second day of admission due to bradycardia and deteriorating the level of consciousness and he died on the third day of admission due to cardiopulmonary arrest. Finally, according to the high levels of 3-Hydroxy Butyryl Carnitine or (C4-OH) METABOLIC DISEASE (SCHAD) was diagnosed.CONCLUSION: Symptoms of METABOLIC DISEASE can be seen with dilatory in infant with normal development. Because of the low recognition of symptoms particularly cardiac involvement, delay in diagnosis can be life threatening.

Cites

No record.

References

No record.

Cite

APA: Copy

MOHAMMADI, M., ALIJANPOUR, M., KHODABAKHSH, E., & REZAPOUR, M.. (2013). A RARE CASE WITH SHORT CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (SCHAD) WITH SYMPTOM OF CARDIAC INVOLVEMENT. JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), 15(4), 115-119. SID. https://sid.ir/paper/73482/en

Vancouver: Copy

MOHAMMADI M., ALIJANPOUR M., KHODABAKHSH E., REZAPOUR M.. A RARE CASE WITH SHORT CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (SCHAD) WITH SYMPTOM OF CARDIAC INVOLVEMENT. JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS)[Internet]. 2013;15(4):115-119. Available from: https://sid.ir/paper/73482/en

IEEE: Copy

M. MOHAMMADI, M. ALIJANPOUR, E. KHODABAKHSH, and M. REZAPOUR, “A RARE CASE WITH SHORT CHAIN HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (SCHAD) WITH SYMPTOM OF CARDIAC INVOLVEMENT,” JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), vol. 15, no. 4, pp. 115–119, 2013, [Online]. Available: https://sid.ir/paper/73482/en

Related Journal Papers