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 |
188 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
f |
| Age of symptoms onset |
14 Month(s) |
| Age of diagnosis |
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| Found in newborn screening |
n |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
Metabolic decompensation occurred during an episode of gastroenteritis at the age of 14 months. Severe hypoglycemia and a typical urinary pattern of organic acids led to the diagnosis of MCAD-deficiency. No acylcarnitine measurements were available at that time. Since then there were no further decompensations. The child is now 10 years of age and has a normal development.
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| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
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| Date of entry |
2001-05-11 16:43:09 |
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