Hereditary Tyrosinemia Type 1 in Jordan: A Retrospective Study

Table 3

Descriptive analysis of the HT1 diagnosed children’s presenting laboratory results.

	Mean (SD)	Frequency	Percentage
Full blood count (CBC)
Low serum hemoglobin level	11.33 g/d (2.00)	8	44.4
Serum platelet	217.00 cells/mm^3 (120.31)
Thrombocytopenia		7	38.9
Thrombocytosis		1	5.6
Blood coagulation studies
Prolonged PT	20.78 seconds (10.53)	14	77.8
High INR	1.67 (1.03)	14	77.8
Prolonged aPTT time (seconds)	36.72 seconds (8.64)	4	22.2
Kidney function tests
Low serum creatinine level	0.250 mg/dL (0.104)	5	27.8
Serum urea (mg/dL) level	18 mg/dL (4.68)
Low		4	22.2
High		1	5.6
Liver function tests
High AST level	135.67 IU/L (313.52)	15	83.3
High ALT level	84.06 IU/L (223.30)	4	22.2
High GGT level	64.39 IU/L (43.47)	13	72.2
High total protein level	6.44 g/dL (0.922)	2	11.1
Low serum albumin level	4.00 g/dL (0.60)	6	33.3
High serum total bilirubin level	2.78 mg/dl (4.85)	8	44.4
High serum direct bilirubin level	1.33 mg/dl (2.47)	8	44.4
Bone profile
Serum calcium level (normal)	9.50 mg/dL (0.62)	18	100
Serum phosphate level	3.67 mg/dL (1.53)
Low		13	72.2
High		1	5.6
Low serum vitamin D level	18.39 ng/mL (7.28)	12	66.7
High ALP level	897.7 IU/L (829.1)	10	55.6
Tumor marker
High AFP level	47807.56 ng/mL (100578.37)	10	55.6
High CEA level	2.50 ng/mL (1.43)	7	38.9
Plasma studies
High plasma succinylacetone	2.28 μmol/L (2.72)	6	33.3
High tyrosine level	295.39 μmol/L (201.74)	14	47.72
Low phenylalanine level	47.72 μmol/L (33.74)	5	27.8
High methionine level	58.22 μmol/L (36.18)	7	38.9