Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Table 1 Blood tests and laboratory analysis

Metabolic test	Unit	Result	Reference
Sphingomyelinase	nmol/mL per hour	0.1	≥2.5
Acid beta-glucosidase		22.8	≥1.8
Acid alpha-glucosidase		8.1	≥3
Galactocerebrosidase		1.4	≥0.4
Alpha-galactosidase		1.5	≥2.8
Alpha-l-iduronidase		9.5	≥2.0
C20 lysophosphatidylcholine	mcg/mL	0.39	≤1.00
C22 lysophosphatidylcholine		0.11	≤0.25
C24 lysophosphatidylcholine		0.11	≤0.30
C26 lysophosphatidylcholine		0.13	≤0.30
Free carnitine plasma	Umol/L	28	29–43
Total carnitine plasma	Umol/L	33	40–56
Aspartylglucoseamine urine		Normal
Alpha mannosidosis urine		Normal
Fucosidosis		Normal
GM1 gangliosidosis		Normal
Sialyloligosaccharide		Normal
Sialic acid	umol/mmol	86.6	< 95.0
Creatinine	mmol/L	1.69
Cholesterol total	mmol/L	4.84	1.15–4.70
HDL		0.16	0.91–2.12
LDL		3.07	≤2.59
Triglyceride		3.51	0.25–0.85
Cholesterol/HDL		30.25	≤4.5
Amino acids
Methionine	Umol/L	63	18–40
Threonine	Umol/L	216	106–164
ALK phosphatase	IU/L	303	40–129
ALT		224	≤41
AST		220	≤40
CRP	mg/L	11.25	≤5

Not normal levels are in bold. ALK alkaline, ALT alanine aminotransferase, AST aspartate aminotransferase, CRP C-reactive protein, HDL high-density lipoprotein, LDL low-density lipoprotein

ISSN: 1752-1947