Table 2.

Summary of Patients’ Clinical Data^[Note]

				Symptoms				Vacuoles in
Family/Patient (Sex)	Age(years)	Place ofOrigin	NCIE?	Liver Disease	Serum Enzyme(s)a (Level[s])	Eyes and Ears	Other	Leukocytes?	Other Organs?
B2 (F)	16	Tunisia	Yes	NA	NA	NA	NA	Yes	No
B7 (M)	18	Tunisia	Yes	Hepatomegaly, liver steatosis	SGOT (<3-fold), SGPT (<2-fold), γGT (<3-fold), CPK (<3-fold), LDH (<2-fold)	Bilateral cataract, mild deafness	Growth retardation	Yes	Skin, liver, bone marrow
B3 (M)	16	Algeria	Yes	None	AP (<2-fold), CPK (<3-fold)	Ectropion, small ears	Mental retardation	Yes	Skin
B8:
B8.1 (F)	2	Algeria	Yes	None	AP (>3-fold), SGOT (<3-fold), SGPT (<2-fold), CPK (<3-fold), LDH (<2-fold)	Small ears	None	Yes	No
B8.2 (F)	8	Algeria	Yes	None	AP (>3-fold), SGOT (<3-fold), SGPT (<3-fold), CPK (<3-fold)	Small ears	None	Yes	No
B6 (F)	16	Algeria	Yes	None	AP (>3-fold)	Bilateral sensory deafness	Mental retardation	Yes	No
B1:
B1.1 (F)	5	Morocco	Yes	NA	NA	NA	NA	Yes	No
B1.2 (F)	8	Morocco	Yes	NA	NA	NA	NA	Yes	No
B10:
B10.1 (M)	16	Turkey	Yes	Hepatomegaly	NA	Small ears, strabismus	Growth retardation	Yes	Skin
B10.2 (F)	21	Turkey	Yes	Liver steatosis	AP (<2-fold), CPK (<2-fold), LDH (<2-fold), aldolase (<2-fold)	Small ears	None	Yes
B10.3 (M)	17	Turkey	Yes	Hepato-/splenomegaly, liver steatosis	AP (<2-fold), SGOT (<2-fold), CPK (>3-fold), LDH (<2-fold), aldolase (<3-fold)	Small ears	None	Yes	Skin
B4 (F)	11	Turkey	Yes	Hepatomegaly	AP (<2-fold), SGOT (<3-fold)	Ectropion, alopecia	None	Yes	No
B9 (F)	16	France	Yes	Hepatomegaly	SGOT (<3-fold), SGPT (<3-fold), AP (<3-fold), aldolase (<3-fold)	Ectropion, strabismus, alopecia	None	Yes	No

Note.— Patients are listed in the same order as are families in figure 2. NA = not available.

^aSGOT = serum glutamate oxaloacetate transaminase; SGPT = serum glutamate pyruvate transaminase; γGT = γ-glutamyltransferase; AP = alkaline phosphatase; CPK = creatine phosphokinase; LDH = lactate dehydrogenase.