Figure 1. Subcutaneous fat accumulation with lipodystrophy of lower extremities in MMA.

(A) Cushingoid phenotype of the index patient, a 6-year-old White girl, with fat accumulation in the torso, dorsocervical area, and shoulders/upper arms, with lipodystrophy of the distal arms and legs. (B) Axial sections of cervical and abdominal CT imaging demonstrating accumulation of subcutaneous fat, marked with asterisks. Arrow points to the minimal visceral fat present in the abdominal CT section. (C) Index patient at 18 years of age showing subcutaneous fat depots over her torso and upper arms. (D) A similar fat accumulation in proximal upper and lower limbs with wasting in distal extremities and presence of dorsocervical hump in 7 additional male and female patients with mut⁰ (low to no methylmalonyl-CoA enzymatic activity) or MMUT-type and (E) 1 cblB- or MMAB-type MMA of various racial and ethnic backgrounds (White, Asian, Pacific Islander, and Hispanic).