We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4
months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 …

Background: Ethylmalonic encephalopathy is a rare inborn error of metabolism
characterized by neurodevelopmental delay/regression, recurrent petechiae, orthostatic …

Ethylmalonic encephalopathy (EE) is a rare metabolic disorder caused by dysfunction of
ETHE1 protein, a mitochondrial dioxygenase involved in hydrogen sulfide (H 2 S) …

Ethylmalonic encephalopathy (EE) is a rare, recently defined inborn error of metabolism
which affects the brain, gastrointestinal system and peripheral blood vessels and is …

Background: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic
disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis …

Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused
by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia …

A 4-month-old male infant was brought to the emergency department because of striking
petechial skin lesions and acrocyanosis. Routine hematology revealed leukocytosis and …

Ethylmalonic encephalopathy is a recently described inborn error of metabolism
characterized clinically by developmental delay and regression, recurrent petechiae …

Objective To delineate the clinical and genetic characteristics of a girl featuring motor
retardation, language retardation and regression, and light persisting diarrhea. Methods The …

Ethylmalonic encephalopathy (EE) is a rare autosomal recessive disorder caused by
mutations in the ETHE1 gene and characterized by chronic diarrhea, encephalopathy …