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Related Experiment Video

Updated: Jun 7, 2026

Lipidomics and Transcriptomics in Neurological Diseases
09:58

Lipidomics and Transcriptomics in Neurological Diseases

Published on: March 18, 2022

Ethylmalonic encephalopathy. Another patient from Kuwait.

Essam A Ismail1, Tarek M Seoudi, Eman A Morsi

  • 1Pediatric Department, Farwaniya Hospital, Kuwait. Tel. +965 9578011. Fax. +965 4893318.

Neurosciences (Riyadh, Saudi Arabia)
|November 5, 2010
PubMed
Summary

Ethylmalonic encephalopathy is a severe genetic disorder. Early diagnosis in infants is crucial for genetic counseling and managing this rare condition.

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Last Updated: Jun 7, 2026

Lipidomics and Transcriptomics in Neurological Diseases
09:58

Lipidomics and Transcriptomics in Neurological Diseases

Published on: March 18, 2022

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Ethylmalonic encephalopathy (EME) is a rare, severe metabolic disorder.
  • It presents in infancy with neurological and gastrointestinal symptoms.
  • Genetic defects in the ETHE1 gene are a known cause of EME.

Purpose of the Study:

  • To report a case of ethylmalonic encephalopathy in a Kuwaiti infant.
  • To highlight the clinical presentation and diagnostic findings.
  • To emphasize the importance of early diagnosis for genetic counseling.

Main Methods:

  • Clinical case presentation.
  • Biochemical analysis of organic acids in blood and urine.
  • Cerebral Magnetic Resonance Imaging (MRI).
  • Genetic mutation analysis of the ETHE1 gene.

Main Results:

  • The patient presented with chronic diarrhea, developmental delay, epilepsy, hypotonia, and pyramidal signs.
  • Elevated plasma lactate and characteristic organic acid profiles confirmed EME.
  • Cerebral MRI revealed basal ganglia and white matter abnormalities.
  • Genetic testing identified a homozygous deletion in exon 4 of the ETHE1 gene.

Conclusions:

  • This case underscores the presentation of ethylmalonic encephalopathy in a Kuwaiti child.
  • Early identification of EME is vital for timely intervention and genetic counseling.
  • Physicians should be aware of this devastating condition for prompt diagnosis.