Successful Medical Therapy for Hypophosphatemic Rickets due to Mitochondrial Complex I Deficiency Induced de Toni-Debré-Fanconi Syndrome

Table 1

Biochemical data over the course of followup.

Age (years)	Calcium; (8–10.5 mg/dL)	Phosphorus; (4.2–6.5 mg/dL)	ALP; (55–380 U/L)	25-OHD (>30 ng/mL)	1,25-OHD; (15–90 pg/mL)	PTH; (10–65 pg/mL)	Treatment
1	10.1	3.5	1171	22	74	279	Started on ergocalciferol
2.5	8.8	2.2	1209	22	72	100	Megadose ergocalciferol
3	9.5	2.7	1153	80	126		Sodium citrate
5 (referred to bone clinic)	9.1	2.0	2049	34	35	170	Phosphate, calcitriol, and sodium citrate
6	9	4.9	886	23	64	41	Same
7	10.1	4.7	883	20	50	38	Same
8	9.1	4.7	1161	19	118	70	Same
9	8.9	2.4	1310	20	36	181	Patient nonadherent to treatment