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 |
295 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
12 Month(s) |
| Age of diagnosis |
11.63 Month(s) |
| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The first child of nonconsanguineous healthy parents had a normal development in her first year of life. A febrile infection at 12 months of age led to a dramatical metabolic decompensation. After diagnosis of MCAD-deficiency was made, therapy was initiated with avoidance of fasting and carnitine supplementation. Under this regiment, hypoglycemic episodes did not appear and psychomotoric development is regular(22 months). |
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-08-02 16:06:38 |
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