Table 3.

Biochemistry

Human Barth Patients	TAZKD Mouse Model
Abnormal molecular composition of cardiolipin, phosphatidylcholine, and phosphatidylethanolamine	Taz mRNA↓ Taz protein↓ Differential expression of TMEM65
TLCL↓	TLCL↓
↑MLCL:CL ratio  >0.3 is threshold for diagnosis	MLCL/CL↑↑ Plasmalogen↓ OCR↓ Reduced components of mitochondrial respiratory chain (especially I, III, IV)
↓Cytochromes
Decreased mitochondrial respiratory chain complex activity in skeletal muscle, cultured fibroblasts, and lymphoblasts
Decrease in supercomplexes	Decrease in supercomplexes
Cardiac-specific loss of succinate dehydrogenase	Cardiac-specific loss of succinate dehydrogenase
3-Methylglutaconic aciduria ↓Arginine level	↓Mitochondria bound myoglobin
↓Prealbumin level
↓Serum cholesterol
ROS↑	ROS↑
Lactic acidemia	↓Fatty acid oxidation enzymes
Blunted fat oxidation and elevated glucose metabolism upon exercise	↑Cytosolic glycolysis Abnormal mitochondria  Mitophagy  Paracrystalline structures  Vacuolated cristae
Structural and functional abnormalities of mitochondria  Inner membrane adhesions  Disrupted cristae
Refs. 2, 3, 5–7, 9, 12, 15, 21, 24, 30, 39, 40, 47, 53, 64, 70, 73, 81, 93, 95, 97, 99, 101, 103	Refs. 1, 21, 31, 37, 42, 44, 58, 59, 71, 78, 79, 89, 90, 101

↑, Increase; ↓, decrease; CL, cardiolipin; MLCL; monolysocardiolipin; TAZKD, knock down expression of tafazzin mRNA; TLCL, tetralinoleoyl cardiolipin; TMEM65, transmembrane protein 65.