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 |
342 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
14 Month(s) |
| Age of diagnosis |
14.69 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Until the age of 14 months, the patient developed normally. At the age of 15th months, gastrointestinal infection led to hypoglycemia, hypotonia, apathia and seizures. Increased levels of octanoylcarnitine in serum led to the diagnosis of MCAD deficiency. Therapy with fat-restricted diet, rich in carbohydrates, and supplementation of carnitine was initiated. There were no further decompensations, but three times febrile convulsions during infections. |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-09-19 16:46:03 |
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