Galactosemia Echocardiography and Ultrasound

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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

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
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