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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