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Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
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- Additional Information
- Source:
Publisher: American Academy of Pediatrics Country of Publication: United States NLM ID: 0376422 Publication Model: Print Cited Medium: Internet ISSN: 1098-4275 (Electronic) Linking ISSN: 00314005 NLM ISO Abbreviation: Pediatrics Subsets: MEDLINE
- Publication Information:
Publication: Elk Grove Village Il : American Academy of Pediatrics
Original Publication: Springfield, Ill., Thomas.
- Subject Terms:
- Abstract:
Objective: 2-methylbutyryl-CoA dehydrogenase deficiency, also known as short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency, is a recently described autosomal recessive disorder of L-isoleucine metabolism. Only 4 affected individuals in 2 families have been described. One patient developed athetoid cerebral palsy, and another had severe motor developmental delay with muscle atrophy. A sibling of the first patient is asymptomatic after prenatal diagnosis and early treatment. Family investigations in the second family revealed that the patient's mother was also affected but asymptomatic.
Methods: We report 8 additional patients identified by prospective newborn screening using tandem mass spectrometry.
Results: Molecular genetic analysis performed for 3 of these patients revealed that all are homozygous for an 1165A>G mutation that causes skipping of exon 10 of the SBCAD gene. Although there was no obvious consanguinity, all patients belong to the Hmong, an ancient ethnic group that originated in China and constitutes only 0.8% and 0.6% of the Minnesota and Wisconsin population, respectively. Dietary treatment was initiated in the neonatal period. Except for 1 patient who developed mild muscle hypotonia, all patients remain asymptomatic at ages ranging from 3 to 14 months of age.
Conclusions: These cases suggest that SBCAD deficiency is another inborn error of metabolism detectable by newborn screening using tandem mass spectrometry. The continued efficacy of long-term dietary therapy instituted presymptomatically remains to be established.
- Number of References:
14
- Grant Information:
DK-54936 United States DK NIDDK NIH HHS
- Accession Number:
0 (acylcarnitine)
04Y7590D77 (Isoleucine)
31023-24-2 (3-methylbutyrylcarnitine)
EC 1.3.- (Oxidoreductases Acting on CH-CH Group Donors)
EC 1.3.99.12 (2-methylacyl-CoA dehydrogenase)
S7UI8SM58A (Carnitine)
- Publication Date:
Date Created: 20030703 Date Completed: 20031218 Latest Revision: 20220331
- Publication Date:
20240829
- Accession Number:
10.1542/peds.112.1.74
- Accession Number:
12837870
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