Galactosemia Echocardiography and Ultrasound: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
|||
| Line 1: | Line 1: | ||
==Overview== | ==Overview== | ||
[[Echocardiography]] is not useful in the [[diagnosis]] of [[galactosemia]]. On the other hand, [[ultrasonography]] provides useful information. | |||
==[[Echocardiographic]] features== | ==[[Echocardiographic]] features== | ||
[[Echocardiography]] is usually normal in [[galactosemia]]. | [[Echocardiography]] is usually normal in [[galactosemia]]. | ||
Latest revision as of 23:19, 5 July 2022
Overview
Echocardiography is not useful in the diagnosis of galactosemia. On the other hand, ultrasonography provides useful information.
Echocardiographic features
Echocardiography is usually normal in galactosemia.
Ultrasound findings
- Liver enlargement[1]
- Low ovarian antral follicle count[2]
- Diminished ovarian volume[3]
- Renal calculi[4]
References
- ↑ Pozzato C, Curti A, Radaelli G, Fiori L, Rossi S, Riva E; et al. (2005). "Abdominal ultrasonography in inheredited diseases of carbohydrate metabolism". Radiol Med. 109 (1–2): 139–47. PMID 15729194.
- ↑ Spencer JB, Badik JR, Ryan EL, Gleason TJ, Broadaway KA, Epstein MP; et al. (2013). "Modifiers of ovarian function in girls and women with classic galactosemia". J Clin Endocrinol Metab. 98 (7): E1257–65. doi:10.1210/jc.2013-1374. PMC 3701263. PMID 23690308.
- ↑ Gubbels CS, Land JA, Evers JL, Bierau J, Menheere PP, Robben SG; et al. (2013). "Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion". J Inherit Metab Dis. 36 (1): 29–34. doi:10.1007/s10545-012-9497-7. PMC 3543609. PMID 22729817.
- ↑ Sabatino JA, Starin D, Tuchman S, Ferreira C, Regier DS (2019). "Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula". JIMD Rep. 49 (1): 7–10. doi:10.1002/jmd2.12056. PMC 6718118 Check
|pmc=value (help). PMID 31497475.