. Author manuscript; available in PMC: 2021 Nov 3.

Published in final edited form as: J Inherit Metab Dis. 2019 Mar 5;42(3):509–518. doi: 10.1002/jimd.12057

TABLE 3.

Molecular and biochemical results are shown for affected individuals

ID	Gender	Specimen analyzed	Acid lipase activity (pmol/min/mg)	Age at testing (years)	Genotype		Annotation	References
ID	Gender	Specimen analyzed	Acid lipase activity (pmol/min/mg)	Age at testing (years)	Mutation 1	Mutation 2	Annotation	References
1	M	WBC (normal values >25 pmol/min/mg protein)	2.5	13	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	NM_001127605.2: c.894G>A, p. Ser275_Gln298del	P	6
2	F	WBC (normal values >25 pmol/min/mg protein)	6.7	8	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	P	7 6
3	M	WBC (normal values >25 pmol/min/mg protein)	0	38	NM_000235.3:c.796G>T, p. Gly266Ter	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	P P	6–8
4	M	WBC (normal values >25 pmol/min/mg protein)	4.3	0.25	NM_000235.3:c.796G>T, p. Gly266Ter	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	P P	6–8
5	F	WBC (normal values >25 pmol/min/mg protein)	6	0.16	NM_000235.3:c.796G>T, p. Gly266Ter	NM_000235.3, c.309C>A, p.SerlO3Arg	P Likely P	9
6	F	WBC (normal values >25 pmol/min/mg protein)	5	17	NM_001127605.2:c.894G > A, p. Ser275_Gln298del	NM_001127605.2:c.386A>G, p.Hisl29Arg	P P	10 6 10
7	F	WBC (normal values >25 pmol/min/mg protein)	0	1	NM_000235.3:c.398delC p. Serl33Ter	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	P P	6,7,11
8	F	WBC (normal values >25 pmol/min/mg protein)	6.7	6	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	P	10
9	F	WBC (normal values >25 pmol/min/mg protein)	5	17	NM_001127605.2:c.894G>A, p. Ser275_Gln298del	NM_001127605:c.386A>G, p.Hisl29Arg	P P	10 10
10	F	WBC (normal values >25 pmol/min/mg protein)	2.5	6	NM_001127605.2:c.894G>A, p. Ser275_Gln298del		P	10,10
11	M	WBC (normal values >25 pmol/min/mg protein)	0	0.16	NM_000235.3:c.398de1C p. Serl33Ter		P	11
12	M	WBC (normal values >25 pmol/min/mg protein)	16	26	NM_000235.3:c.856G>C, p. Ala286Pro		Likely P
13	M	WBC (normal values >25 pmol/min/mg protein)	10	14	NM_000235.2:c.253C>A, p. Gln85Lys		P	12
14	U	Fetal cells from amniocentesis (normal range 40–160 pmol/min/mg protein)	2.3	N/A	NM_000235.3:c.894G>C, p. Gln298His	NM_000235.3:c.1033G>A p.Asp345Asn	P Likely P	13 3
15	U	Fetal cells from amniocentesis (normal range 40–160 pmol/min/mg protein)	23.2	N/A	NM_000235.3:c.260G>T, p. Gly87Val		P	14
16	u	Fetal cells from CVS (normal range 40–160 pmol/min/mg protein)	58	N/A	NM_000235.3:c.260G>T, p. Gly87Val		P	14

Abbreviations: F, female; Hmz: homozygous, Htz: heterozygous, M, male; P, pathogenic; likely pathogenic.

LAL activity for WBC (white blood cells), amniocentesis, chorionic villus sampling (CVS), and liver are included. Novel LIPA variants are underscored.