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 |
505 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
1.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
As a sister of the patient has got a metabolic disease (MCAD, ID 189), a selective screening for metabolic disrders (ZfS Reutlingen, Germany) was initiated at the first day of life.
Increased levels of octanoylcarnitine and increased ratio of octanoylcarnitine/ decanoylcarnitine were found.
Metabolic decompensation did not occur up to now (6 months of age). |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2002-01-25 12:57:03 |
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