Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Table 1 Complications of 60 Chinese patients with propionic acidemia

Complications	Total^a (60)		Early-onset (25)		Late-onset (30)		P value^f
Complications	n	%	n	%		%	P value^f
Skin lesions	19	31.7	7	28.0	12	40.0	0.351
Neurological involvement
Intellectual disability	36	60.0	16	64.0	20	66.7	0.836
Seizures	25	41.7	8	32.0	17	56.7	0.114
Hearing impairment^b	3	5.0	1	4.0	2	6.7	1.000
Hematological abnormalities
Anemia	23	38.3	12	48.0	10	33.3	0.269
Pancytopenia	9	15.0	5	20.0	4	13.3	0.765
Thrombocytopenia	2	3.3	2	8.0	0	0	0.202
Digestive system abnormalities
Intermittent vomiting	18	30.0	5	20.0	12	40.0	0.110
Liver involvement^c	14	25.0	7	28.0	7	23.3	0.692
Renal dysfunction^d	2	3.3	2	8.0	0	0	0.202
Cardiac diseases^e	4	6.7	1	4.0	3	10.0	1.000
Death	9	15.0	7	28.0	2	6.7	0.078
Age at the last follow-up (years, median and range)	3.0 (0.2–19.0)		1.4 (0.2–10.0)		3.3 (0.7–19.0)		0.021

^aThe five patients found by newborn screening were not classified as early-onset (onset age ≤ 3 months) or late-onset (onset age > 3 months) propionic acidemia due to no obvious symptoms
^bHearing impairment referred to bilateral delay of auditory brainstem response
^cLiver involvement included hepatomegaly and liver dysfunction (increased liver enzymes)
^dRenal dysfunction referred to acute renal failure
^eCardiac diseases included long QT syndrome and heart failure
^fChi-square test and Mann–Whitney U test were used for comparisons between early- and late-onset propionic acidemia

ISSN: 1750-1172