Neontal unconjugated hyperbilirubinemia.
T2- high signal of white matter periventricular.
RV/LV apical trabeculae. Persistently elevated transaminases (AST & ALT), CK, LDH and myoglobin. Liver-fibrosis. Pathological muscle-biopsy.
High probability of autophagy pathway disorder.
Symptoms / Signs
- Multi-organ involvement
- Progressive joint hypomobility, hypermobility
- Coordination- and balance difficulties
- Chronic fatigue
- Exercise intolerance
- Tongue weakness
- Eye drusen
- Mild cognitive impairment, delayed cognitive development
- Kidney stones
Previously Considered Diagnoses
- Muscular dystrophy, mitochondrial disease, lysosomal disorders, glycogen storage diseases, for e g Danon disease, Pompe disease.
Genetic Variants of Interest
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