Differential Diagnosis for 39-year-old Male with OAT Results
Single Most Likely Diagnosis
- Mitochondrial Dysfunction: Elevated citric acid (51), succinic acid (1.2), and malic acid (0.43) suggest impaired mitochondrial function, which can lead to energy production deficits. The presence of elevated 3-methylglutaconic (0.74) and 3-hydroxyglutaric (1.4) also supports this diagnosis.
Other Likely Diagnoses
- Gut Dysbiosis: Elevated hippuric acid (36), 4-hydroxyphenylacetic acid (4.9), and 4-cresol (3.5) indicate an overgrowth of certain bacteria in the gut, which can lead to impaired nutrient absorption and toxin production.
- Oxalate Metabolism Disorder: Elevated oxalic acid (25), glycolic acid (21), and glyceric acid (1.3) suggest an issue with oxalate metabolism, which can lead to kidney stone formation and other complications.
- Folate Metabolism Disorder: Elevated uracil (1.6) and low pyridoxic (B-6) (0.00) suggest impaired folate metabolism, which can lead to anemia, fatigue, and neurological symptoms.
Do Not Miss Diagnoses
- Vitamin B12 Deficiency: Elevated methylmalonic acid (0.64) suggests a potential vitamin B12 deficiency, which can lead to anemia, neurological symptoms, and increased homocysteine levels.
- Kidney Disease: Elevated phosphoric acid (1460) and creatinine (283 mg/dL) suggest impaired kidney function, which can lead to electrolyte imbalances, fluid retention, and other complications.
Rare Diagnoses
- Pyridoxine-Responsive Epilepsy: Low pyridoxic (B-6) (0.00) and elevated 4-pyridoxic acid (not measured) may suggest a rare condition that responds to vitamin B6 supplementation.
- Methylmalonic Acidemia: Elevated methylmalonic acid (0.64) and 3-hydroxypropionic acid (not measured) may suggest a rare genetic disorder that affects methylmalonic acid metabolism.
- Coenzyme Q10 Deficiency: Elevated 3-hydroxy-3-methylglutaric acid (6) may suggest a rare genetic disorder that affects CoQ10 biosynthesis.