A 9-year-old girl is brought to the emergency department for sudden-onset slurring of speech and weakness of her right arm and leg. She has a mild intellectual disability. She is at the 10th percentile for weight and at the 85th percentile for height. Physical examination shows bilateral inferonasal subluxation of the lens and a high-arched palate. Her fingers are long and slender. Neurological examination shows an extensor plantar response on the right. This patient is most likely to respond to treatment with which of the following?
- A)Supplementation of methionine
- B)Restriction of phenylalanine
- C)Alkalinization of urine
- D)Supplementation of vitamin B6GABARITO
- E)Restriction of cysteine
Explicação
This patient presents with the classic constellation of homocystinuria due to cystathionine beta-synthase (CBS) deficiency: marfanoid habitus (tall stature with disproportionate height-to-weight ratio, arachnodactyly, high-arched palate), inferonasal ectopia l... Ver explicação completa e trilha adaptativa →