[Skip to Content]
[Skip to Content Landing]
September 27, 1958


JAMA. 1958;168(4):415. doi:10.1001/jama.1958.03000040051013

Hypophosphatasia, a relatively rare condition, has been defined as an inborn error of metabolism characterized by abnormal mineralization of bone, diminished alkaline phosphatase activity, and increased urinary excretion of phosphorylethanolamine. One of the reasons it has been so rarely reported is that some cases have undoubtedly been thought to be rickets. Although no accurate estimate of the prevalence of the disease can be made, Fraser1 believes it to be about one in every 100,000 live births. The disease is hereditary and close relatives even though they may show no outward signs of the disease are usually found to have a low phosphatase activity. When the condition is present at birth, failure to grow, vomiting, irritability, and constipation are commonly noted.2 In general the later in life the disease is discovered the better the chances for recovery. There is a deficiency of calcification and as a result the growth

First Page Preview View Large
First page PDF preview
First page PDF preview