Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients

Table 2 Laboratory features of 4 Chinese patients with combined MMA and homocysteinemia

	Patient 1	Patient 2	Patient 3	Patient 4
Hemoglobin(g/dL)	9.8 ~ 11.6	11.5 ~ 12.5	9.6 ~ 11.5	104
MCV(fL)	113.4 ~ 118.6	91.3 ~ 92.5	89.4 ~ 94.6	103.8
Platelet(×10⁹/L)	322 ~ 387	161 ~ 317	249 ~ 332	502
Urine protein	Negative ~ 2+	2+	Negative ~ 2+	Negative
Urinary erythrocytes	0-2/HP ~ 2-6/HP	0-2/HP ~ 4-6/HP	0-2/HP ~ 2-4/HP	sparse
Arterial blood gas analysis	P_aO₂: 27 mmHg, mild metabolic acidosis	P_aO₂: 49 mmHg	P_aO₂: 60 mmHg	P_aO₂: 83 mmHg
Liver function,serum albumin, cholesterol, triglyceride	Normal	Normal	Normal	Normal
IBIL (μmol/L)	33.5	10.5	21.9	8.69
BUN(mmol/L)	7.1	12.37	BUN7.73	BUN9.67
Cr (μmol/L)	38	67	115	71
eGFR (80–120 mL/min/1.73 m²)	81	61	37	64
Serum LDH(IU/L)	563(normal range:50 ~ 240)	384(normal range:50 ~ 240)	286(normal range:110 ~ 295)	330((normal range: 110 ~ 295)
Methionine concentrations (normal range:8.6 ~ 23.3 μmol/L)	7.6	22.6	8.4	11.1
Serous vitamin B12	Normal	Normal	Normal	Normal
Serous folate	Normal	Normal	Normal	Normal
Complement C3,C4	Normal	Normal	Normal	Normal
Thyroid hormones	Normal	Normal	Normal	Normal
Immune globulin	Normal	Normal	Normal	Normal
Lymphocyte subsets	Normal	Normal	Normal	Normal
Serum ceruloplasmin	Normal	Normal	Normal	Normal
ANA,dsDNA,ACA, ANCA	Negative	Negative	Negative	Negative
Anti-GBM Ab	Negative	Negative	Negative	Negative
Coombs test	Negative	Negative	Negative	±
Bone marrow examination	Megaloblastic anemia	Normal	Megaloblastic anemia	Normal

Abbreviations: ANA antinuclear antibody; ACA anticardiolipin antibody; ANCA antineutrophil cytoplasmic antibody; anti-GBM Ab-Anti-glomerular basement membrane antibody; BUN blood urea nitrogen; Cr creatinine; dsDNA double stranded DNA antibody; eGFR estimated glomerular filtration rate; LDH lactate dehydrogenase; IBIL indirect bilirubin concentration; MCV Mean Corpuscular Volume

ISSN: 1750-1172