Main data
|
|
Molecular genetics
|
|
Lab findings
|
|
Symptoms
|
|
Diet/drugs
|
|
Therapy/development
|
|
References
|
|
Disease information
|
|
Gene information
|
|
Pathway information
|
|
Substance information
|
 Data management
|
|
|
| Patient ID |
316 |
| Diagnosis |
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF (MIM 201450) |
| Gender |
m |
| Age of symptoms onset |
0 Day(s) |
| Age of diagnosis |
7.72 Week(s) |
| Found in newborn screening |
y |
| Diagnosis confirmed |
y |
| Country |
Germany |
| Ethnic origin |
Mother: German, Father: German |
| History |
The patient was found in the newborn screening program with increased concentration of octanoylcarnitine in blood and elevated ratio of octanoylcarnitine:decanoylcarnitine.
After diagnosis of MCAD-deficiency was made, treatment with carnitine supplementation and avoidance of fasting was initiated.
The patient never came to metabolic decompensation. Psychomotoric and mental development is normal (16 months). |
|
| Author |
Friedrich Trefz |
| Hospital |
Childrens Hospital Reutlingen |
| Coauthor(s) |
|
| Date of entry |
2001-08-09 17:39:57 |
|
|
