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 |
498 |
Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
Gender |
f |
Age of symptoms onset |
0 Day(s) |
Age of diagnosis |
4.00 Day(s) |
Found in newborn screening |
y |
Diagnosis confirmed |
y |
Country |
Germany |
Ethnic origin |
Mother: Turkish, Father: Turkish |
History |
Hypotrophic newborn, otherwise normal. Found in neonatal screening. |
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Author |
Friedrich Trefz |
Hospital |
Childrens Hospital Reutlingen |
Coauthor(s) |
Georg Hoffmann |
Date of entry |
2002-01-18 14:55:50 |
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