Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports

Table 2 Clinical, genetic, and glycomic features of all reported patients with mannosyl-oligosaccharide glucosidase deficiency[4]

Patients in the order of publication date	1[4]	2/31[5]	4[6]	52[7] and present report	62[7] and present report	7[8]	8[9]	9[10]	103[10]	113[10]	12[11]
Sex	Female	Male/Female	Male	Female (younger)	Female (elder)	Female	Male	Male	Female	Male	Female
Age of onset	Neonatal	Early in life	Neonatal	Neonatal	Neonatal	Neonatal	Neonatal	Neonatal	Neonatal	Neonatal	Neonatal
Neurologic symptoms
Microcephaly	+	+	+	+	+	ND	+	+	+	+	+
Seizures	EIEE	+	ND	+	ND	Infantile spasm	+	EIEE	EIEE	EIEE	+
Psychomotor disturbance	ND	Profound	ND	Profound	Profound	+	ND	Profound	Profound	Profound	Profound
Hypotonia	+	+	+	-	-	+	+	+	+	+	+
Cerebral abnormality	-	Small corpus callosum, optic-nerve atrophy	-	ND	Frontal gyrus stenosis, high T1W1 signal in anterior pituitary, and thin corpus callosum	Thin corpus callosum, wide cerebral sulcus	Agenesis of corpus callosum, septo-optic dysplasia	Loss of white matter volume, delayed myelination	Loss of white matter volume	Loss of white matter volume	Delayed myelination, cortical and subcortical atrophy
Dysmorphic features		+ (ND)					+ (ND)
Broad nose	+		+	+	+	+		+	+	+	-
High-arched palate	+		+	+	ND	ND		+	+	+	ND
Retrognathia	+		+	+	+	ND		+	+	+	+
Short palpebral fissure	+		+	+	+	+		+	+	+	-
Enlarged ears	+		ND	+	+	ND		+	+	+	ND
Overlapping finger/toe	+		+	+	ND	ND		+	+	+	ND
Arthrogryposis	+	+	ND	ND	ND	ND		+	+	+	ND
Hypertrichosis	+		+	+	+	ND	+	+	+	+	+
Hypoplastic genitalia	+	+	ND	Abnormal fat distribution	-	-	Hypogonadism	+	ND	ND	ND
Cardiac involvement	-	-	ASD, LVH	ASD, PFO, heart failure, and pericardial effusion	PFO, heart failure	PFO, ASD	Dilated cardiomyopathy	+	-	-	ND
Elevated AST/ALT (IU/L)	+(80/34)	ND	ND	+ (46-154/14-81)	+ (49-121/17-56)	+		+ (30-1547/9- 1132)	+ (35-144/23-83)	+ (36-226/50.5-164)	ND
Cirrhosis	ND	ND	ND	ND	ND	ND	ND	-	+	+	ND
Hepatomegaly	+	ND	+	+	+	+	+	+	+	+	ND
Hypogammaglobulimia	Low IgA	Low IgG, IgA, IgM	Low IgA, IgM	Low IgA	Low IgA, Normal IgG and IgM after IVIG	Low IgG, IgA, IgM	Low IgA	Low IgA	Low IgA	Low IgA and IgG	Low IgG2
Recurrent infections	+	-	+	+	+	+	+	+	+	+	+
Endocrine abnormality	ND	ND	SIADH	ND	Hypoglycemia, electrolyte disturbance, and central hypothyroidism	ND	ND	Hyponatremia	ND	ND	Hypoglycemia; elevated cortisol, progesterone, and androstenedione levels
Edema	+	ND	+	+	+	+	ND	+	ND	ND	-
Hearing impairment	Flat with ABR	Sensorineural hearing loss	Abnormal ABR	Hearing impairment	ND	-	ND	No wave with ABR	Only I wave with ABR	Only I wave with ABR	Hypoacusia
EEG	Suppression burst pattern	ND	ND	ND	ND	Atypical hypsarrhythmia	ND	Suppression burst pattern	Suppression burst pattern	Suppression burst pattern	Hypsarrhythmia
Isoelectric focusing of transferrin	Normal	ND	Increased trisialotransferrin	ND	ND	Normal	Normal	Normal	Normal	Normal	Normal
Urinary oligosaccharide	Abnormal	ND	ND	ND	ND	ND	Abnormal	Abnormal	ND	ND	ND
IgG or serum glycan analysis	ND	Increased N2H10 in IgG; Increased N2H10, N2H11 and N2H12 in serum	ND	Increased N2H10 and N2H5 in IgG	ND	ND	ND	ND	ND	ND	ND
MOGS gene mutations	p.Arg486Thr and p.Phe652Leu	p.Ala22Glu, p.Arg110His, and p.Gln124Ter	p.Thr802Ileand p.Arg535Ter	p.Asp414Leufs*17, p.Gly182Arg, and p.Asp566Glu	p.Asp414Leufs*17, p.Gly182Arg, and p.Asp566Glu	p.Arg565Gln and p.Arg540His	p.Arg495Ter and p.Gly752Asp	p.Gln505del and p.Arg495Ter	ND	p.Gln505del and p.Arg535Ter	p.Pro513Ser and p.Gly824Asp
Prognosis	Died (74 d)	Alive (11 yr/6 yr)	Died (4 mo)	Died (9 mo)	Died (10 mo)	Alive (2 yr 1 mo)	Died (1 yr)	Alive (13 yr)	Died	Died	Alive (19 yr)

¹Siblings.

²Siblings.

³Siblings.

⁴Updated on the basis of Anzai et al[10].

ASD: Atrial septal defect; EEG: Electroencephalogram; EIEE: Early infantile epileptic encephalopathy; LVH: Left ventricular hypertrophy; N2H5: Man5GlcNAc2; N2H10: Glc3Man7GlcNAc2; N2H11: Glc3Man8GlcNAc2; N2H12: Glc3Man9GlcNAc2; ND: No data available or not determined; PFO: Patent foramen ovale; SIADH: Syndrome of inappropriate secretion of antidiuretic hormone.