Diseases
Overview
The PSOD initially is helping patients with the diseases listed. These are cases locally diagnosed and have patients residing in the Philippines.
Rare diseases in the IHG-PSOD registry:
- 6 Pyruvoltetrahydropterin Synthase Deficiency
- Adrenoleukodystrophy
- Autoimmune Chronic Active Hepatitis
- Galactosemia
- Gaucher Disease
- Hemophagocytic Lymphohystiocytosis
- Heperphenylalanemia
- Heterozygous Cystenuria
- Holocarboxylase synthase deficiency
- Homocystenuria
- Homozygous Cystenouria
- Lowe Syndrome
- LSD – Multiple Sulfatase Deficiency
- Maple Syrup Urine Disorder
- Methyl Malonic Aciduria
- Moebius Syndrome
- Mucolipidosis
- Mucopolysaccharidosis
- Niemann pick
- Osteogenesis Imperfecta
- Phenylketonuria
- Pompe Disease
- Respiratory Chain Complex/Deficiency
- Tay Sach’s Disease
- Tyrosinemia
- Urea Cycle Defects
