Margaret Doreen Baber (1910 – 1997) was a Welsh paediatrician eponymously remembered for describing Baber syndrome in 1956
- Born 5 May 1910 in Pontypool, Wales
- 1934 – MB BS, University College Hospital , London
- 1935-1938 Paediatric training at Alder Hey Hospital, Liverpool; Johns Hopkins Hospital, Baltimore; and the Toronto Hospital for Sick Children
- 1939-1944 St Helier Hospital, Carshalton; MRCS, LRCP
- 1945-1970 Paediatrician at the Edgware General Hospital, Middlesex
- 1950 – Married Dr Geoffrey Hales Jennings (1905-1993)
- Died 4 July 1997 in Torfaen, Gwent Wales
Baber syndrome (1956)
Baber syndrome is a autosomal recessive condition caused by an error in tyrosine degradation due to a deficiency of fumarylacetoacetate hydrolase (FAH). This leads to the production of toxic metabolites which mainly damage the liver and kidneys. Liver cirrhosis develops along with clinical features similar to those found in the Fanconi syndrome.
The affected child is normal at birth, with onset of symptoms around 2-8 weeks of age. These include failure to thrive, lethargy, irritability, drowsiness; anorexia, vomiting, and diarrhoea with foul-smelling stool and abdominal distention. Chronic renal impairment leads to rickets.
Also known as Hereditary tyrisonaemia type-1 (HT-1) or hepatorenal tyrisonaemia, the syndrome is most commonly seen in the French-Canadian population of Quebec. Margaret Baber wrote the first case description in 1956 at Edgeware General Hospital, Middlesex:
An infant suffering from gross amino-aciduria of a distinctive type, with other manifestations similar to those found in the Fanconi syndrome, is described. Cirrhosis of the liver in an advanced stage was present when the child was first seen at the age of 9 months, and the history suggests that it was congenital in origin. Rickets developed and progressed in spite of the administration of large doses of ‘calciferol’.Baber 1956: 339
- Baber MD, Stuart RD. Leptospirosis canicola; a case treated with penicillin. Lancet. 1946;2(6426):594-596.
- Baber MD. Modern treatment of acute rheumatism in childhood. Med Press. 1949;222(5):93-95.
- Baber MD, Rosser EI, Lavertine JD. Carcinoma of the cervix uteri in an infant. Br Med J. 1951;1(4703):392-394.
- Baber MD. A case of osteomyelitis of all the small bones of the hands and feet. Arch Dis Child. 1953;28(137):24-25
- Baber MD. A case of congenital cirrhosis of the liver with renal tubular defects akin to those in the Fanconi syndrome. Arch Dis Child. 1956;31(159):335-339. [Baber syndrome]
- Baber MD. Two cases of reticuloendotheliosis-Letterer-Siwe syndrome. Arch Dis Child. 1960;35(184):613-619.
- Baber MD. Image of Nursing. Br Med J. 1965;2(5459):481.
- Obituaries: Margaret Doreen Baber BMJ 1997;315:1022
- Medes G. A new error of tyrosine metabolism: tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine. Biochem J. 1932;26(4):917-940.
- Imseis EM, Bynon JS, Thornhill C. Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era. World J Hepatol. 2017 Mar 28; 9(9): 487–490
- Laberge G. Hereditary tyrosinemia in a French Canadian isolate. Am J Hum Genet. 1969 Jan; 21(1): 36–45.