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 |
343 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
m |
| Age of symptoms onset |
7 Year(s) |
| Age of diagnosis |
7.29 Year(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
n |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient had normal development during his first 7 years of life. After a long and hot day in Italy during holidays, the boy presented with coma, seizures and hypoglycemia. Elevated levels of octanoylcarnitine and decenoylcarnitine revealed the diagnosis of MCAD deficiency. |
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| Author |
Herbert Korall |
| Hospital |
Zentrum fuer Stoffwechseldiagnostik Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-09-19 18:03:02 |
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