Phenotype #0000337124
| Individual ID |
00446898 |
| Associated disease |
MSUD1A |
| Phenotype details |
progressive encephalopathy since day 5 after birth with poor suckling, vomiting, irritability and consequently lethargy so admitted in NICU when he was 8 days old. He developed convulsions with respiratory distress therefore, underwent mechanically ventilation and antibiotic regimen for presumptive neonatal sepsis but without improvement. Initial biochemical investigations showed metabolic acidosis and a mild elevated ammonia. Further biochemical analysis of expanded metabolic screening of amino acids and acylcarnitines at 18 days of age revealed marked elevated BCAAs in blood and nonspecific elevation of 4-OH phenyl lactate and 4-OH phenyl pyruvate on urine organic acid analysis by GC-MS |
| Diagnosis/Initial |
marked elevation of leucine/isoleucine 3590µmol/l and also show significant elevation on several occasions of metabolic stress |
| Diagnosis/Definite |
MUSD |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
00y00m08d (8 days) |
| Age/Onset |
00y00m05d |
| Phenotype/Onset |
- |
| Age/Diagnosis |
00y00m18d |
| Protein |
- |
| Owner name |
Zeinab Sayed Abdelkhalek |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-02-02 10:22:13 +01:00 (CET) |
| Date last edited |
N/A |
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