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Genetics and Metabolism
Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2016;59(Suppl 1):S45-S48.   Published online November 30, 2016

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive mitochondrial disorder of fatty acid β-oxidation, and is associated with mutations in the acyl-CoA dehydrogenase (ACADS) gene. Recent advances in spectrometric screening for inborn errors of metabolism have helped detect several metabolic disorders, including SCADD, without symptoms in the neonate period. This allows immediate initiation of treatment and monitoring, so...

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1
Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim
Clin Exp Pediatr. 2014;57(9):416-419.   Published online September 30, 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0...

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia
Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Chung Sik Lee, Han Wook Yoo
Clin Exp Pediatr. 2011;54(3):137-140.   Published online March 31, 2011

Testicular adrenal rest tumors (TARTs) are considered to be formed from aberrant adrenal tissue that has become hyperplastic because of elevated adrenocorticotropic hormone (ACTH) in male patients with congenital adrenal hyperplasia (CAH). A 6-year-old boy presented with testicular enlargement and pubic hair. He was diagnosed with CAH complicated by precocious puberty. However, he was not followed-up. At the age of...

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