Abstract | CONTEXT: OBJECTIVE: CASE REPORT: A 15-month-old Korean girl presented with yellow dermal plaques over flexural areas including the wrist, neck, and gluteal folds, which were consistent with intertriginous xanthomas. The lesions were first noticed at 3 months of age when she was being exclusively breastfed. Her total cholesterol and low-density lipoprotein-cholesterol levels were 675 and 540 mg/dL, respectively. A low-fat/low- cholesterol diet and cholestyramine therapy were introduced. Unexpectedly, her serum cholesterol level decreased dramatically and normalized in 2 months. Cholestyramine was tapered off. The xanthomas also regressed and disappeared by 3 years of age. Gas chromatography-mass spectrometric analysis was performed with serum drawn at 3 years of age when her low-density lipoprotein-cholesterol was 118 mg/dL, which revealed striking elevation of her sitosterol level at 19.36 mg/dL. Direct sequencing for ABCG5 revealed compound heterozygous null mutations c.904+1G>A (p.Met302Asnfs*82) and c.1336C>T(p.Arg446*). CONCLUSIONS:
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Authors | Joong Heum Park, In Hyuk Chung, Dong Hyun Kim, Man Ho Choi, Abhimanyu Garg, Eun-Gyong Yoo |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 99
Issue 5
Pg. 1512-8
(May 2014)
ISSN: 1945-7197 [Electronic] United States |
PMID | 24423340
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- ABCG5 protein, human
- ATP Binding Cassette Transporter, Subfamily G, Member 5
- ATP-Binding Cassette Transporters
- Lipoproteins
- Phytosterols
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Topics |
- ATP Binding Cassette Transporter, Subfamily G, Member 5
- ATP-Binding Cassette Transporters
(genetics)
- Diet, Fat-Restricted
- Female
- Humans
- Hypercholesterolemia
(diagnosis, diet therapy, genetics)
- Infant
- Intestinal Diseases
(diagnosis, diet therapy, genetics)
- Lipid Metabolism, Inborn Errors
(diagnosis, diet therapy, genetics)
- Lipoproteins
(genetics)
- Phytosterols
(adverse effects, genetics)
- Treatment Outcome
- Xanthogranuloma, Juvenile
(diagnosis, diet therapy, genetics)
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