Main data
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Molecular genetics
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Lab findings
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Symptoms
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Diet/drugs
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Therapy/development
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References
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Disease information
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Gene information
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Pathway information
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Substance information
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 Data management
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| Patient ID |
311 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
17 Month(s) |
| Age of diagnosis |
16.03 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Australia |
| Ethnic origin |
Mother: unknown, Father: unknown |
| History |
The girl was deliverd at 32 weeks of gestation by caesarean section, indicated on maternal grounds. Birth weight was 1280g, Apgar 7/8. The baby was tube fed for one week and then thrived. Developmental milestones were apropiate for age. At age 17 months she vomited five times, but was afebrile and not convined to bed. The following morning she was found in a comatose state and died.
J. Inherit. Metab. Dis. 23 (2000) 518-519
10947209 |
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| Author |
Published Cases |
| Hospital |
Published Case |
| Coauthor(s) |
Nelson J, Lewis B, Walters B |
| Date of entry |
2001-08-09 11:13:54 |
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