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 |
564 |
Diagnosis |
GLUTARIC ACIDEMIA I (MIM 231670) |
Gender |
m |
Age of symptoms onset |
0 Day(s) |
Age of diagnosis |
10.97 Month(s) |
Found in newborn screening |
n |
Diagnosis confirmed |
y |
Country |
Germany |
Ethnic origin |
Mother: Turkish, Father: Turkish |
History |
Second child of healthy, non-consanguineous Turkish parents. The boy presented with macrocephaly and several neurological signs. Highly increased levels of glutaric acid in urine were found and led to the diagnosis of glutaric aciduria type 1. Initiation of lysine- and tryptophan reduced diet. |
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Author |
Willy Lehnert |
Hospital |
University Childrens Hospital Freiburg |
Coauthor(s) |
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Date of entry |
2002-05-02 16:26:08 |
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