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 |
336 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
6.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The first child of nonconsanguineous healthy parents was admitted to hospital because of elevated levels of octanoylcarnitine in newborn screening program (Prof.Sander,Hannover,Germany). Increased levels of octanoylcarnitine and increased ratio of C8/C10-acylcarnitines in blood led to the diagnosis of MCAD deficiency.
The girl never showed any clinical symptoms and developped normally.
Therapy with carnitine and avoidance of fasting was initiated. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-09-13 14:32:49 |
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