neonatal diabetes mellitus with congenital hypothyroidism
Nonfunctional L-Gulonolactone Oxidase
Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
overhydrated hereditary stomatocytosis
permanent neonatal diabetes mellitus +
peroxisomal disease +
Phenacetin O-Deethylase, Deficiency of
Phenol Sulfotransferase Deficiency
phosphoglycerate kinase 1 deficiency
Phosphohydroxylysinuria
plasma protein metabolism disease +
Poor Drug Metabolism, CYP2C19-Related
Poor Drug Metabolism, CYP2D6-Related
Poor Metabolism of Proguanil
porphyria +
progeria +
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
renal tubular transport disease +
Retinol-Binding Protein Deficiency
SEDOHEPTULOKINASE DEFICIENCY
sepiapterin reductase deficiency
Squalene Synthase Deficiency
steroid inherited metabolic disorder +
Stomatocytosis II
Succinic Acidemia
SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
This is a disease characterized by a variable phenotype ranging from no clinical symptoms (most patients) to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting.