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 |
189 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
5.00 Day(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Newborn-screening by tandem mass spectrometry revealed the diagnosis of MCAD-deficiency . By supplementation of carnitine and avoidance of starvation the infant had no episode of decompensation. At the age of 13 months, she was hospitalized because of an rotavirus infection. The course was uncomplicated. At 2.7 years she again suffered from severe gastroenteritis which made hospitalization necessary.
There were no further problems (now 2 years of age). |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-05-14 13:45:37 |
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