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Ethanolaminosis

MedGen UID:: 120637
•Concept ID:: C0268423
•: Disease or Syndrome

Synonym:	ETHANOLAMINE KINASE DEFICIENCY
SNOMED CT:	Ethanolaminosis (64235006); Ethanolamine kinase deficiency (64235006); Ethanolaminuria (64235006)

Monarch Initiative:	MONDO:0009199
OMIM®:	227150

Clinical features

From HPO

Cardiomegaly

MedGen UID:: 5459
•Concept ID:: C0018800
•: Finding

Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.

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Generalized hypotonia

MedGen UID:: 346841
•Concept ID:: C1858120
•: Finding

Generalized muscular hypotonia (abnormally low muscle tone).

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Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

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Abnormality of metabolism/homeostasis
- Abnormality of metabolism/homeostasis
Abnormality of the cardiovascular system
- Cardiomegaly
Abnormality of the musculoskeletal system
- Generalized hypotonia

Recent clinical studies

Etiology

Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.

Vietor KW, Havsteen B, Harms D, Busse H, Heyne K
Eur J Pediatr 1977 Aug 23;126(1-2):61-75. doi: 10.1007/BF00443124. PMID: 198213

Primary carcinoma of the liver: description of a case with ethanolaminuria, a new and obscure metabolic defect.

DENT CE, WALSHE JM
Br J Cancer 1953 Jun;7(2):166-80. doi: 10.1038/bjc.1953.16. PMID: 13081898 Free PMC Article

Ethanolaminuria; an obscure metabolic defect associated with a case of primary hepatoma.

DENT CE, FOWLER DI, WALSHE JM
Biochem J 1951 Jan;48(1):xiii-iv. PMID: 14820809

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