Heterozygote detection for maple syrup urine disease in cattle

SUMMARY The clinical, pathological and biochemical manifestations of maple syrup urine disease (MSUD) are similar in Poll Hereford and Poll Shorthorn X Poll Hereford calves. No significant differences were observed in branched-chain amino acid concentrations in plasma, or of branched-chain keto acid dehydrogenase activity in fibroblasts, between Poll Herefords homozygous normal and heterozygous for the mutation responsible for MSUD. Haemopoietic chimerism resulted in incorrect diagnosis of the MSUD genotype in 30% of non-identical twins when blood DNA was analysed using allele-specific amplification. Hair roots are shown to be a suitable source of target DNA for genotyping Poll Hereford cattle for the MSUD mutation. Twelve of 203 (5.8%) aged Poll Hereford bulls, sampled at saleyards during the last 4 months of 1993, were found to be heterozygous for the mutation. In contrast, the mutant sequence was detected in only 1 of 150 (0.7%) 2- and 3-year-old Poll Hereford bulls offered for sale at 2 stud sales held during 1993, suggesting that the prevalence of the disease may decline over the next few years.     

Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease

OBJECTIVE: To develop a routine procedure for establishing the inherited congenital myoclonus (ICM) genotype of cattle and to obtain an estimate of the prevalence of heterozygotes for ICM and maple syrup urine disease (MSUD) in Australian Poll Herefords. DESIGN: A mismatch amplification procedure was developed to genotype for ICM. The ICM and MSUD genotypes of subjects from a 'neuraxial oedema' experimental breeding herd were investigated. Tail hair roots were used as a source of target DNA to determine the ICM and MSUD genotypes of 455 Poll Hereford bulls. RESULTS: An Acc I mismatch procedure was found to be suitable to genotype cattle for the ICM alleles using tail hair roots as the source of DNA. Based on the prevalence of heterozygotes among saleyard and sale bulls in the early 1990s, and contemporary slaughter bulls, the frequencies of the alleles responsible for ICM and MSUD were estimated to be between 0.01 and 0.02. CONCLUSION: This survey demonstrates that the mutations responsible for ICM and MSUD are present in the Australian Poll Hereford population. PCR tests could be used to advantage in differential diagnosis of neurological disease in newly born calves and in selection of Poll Hereford seed stock.     

Maple syrup urine disease in calves: a clinical, pathological and biochemical study

The clinical, pathological and biochemical findings of a study of 30 Poll Hereford, Hereford, Poll Hereford cross or Hereford cross calves affected with branched chain ketoacid dehydrogenase (BCKAD) complex deficiency or maple syrup urine disease (MSUD) are presented. In breeding studies, 6 of 21 calves from obligate heterozygote matings were affected with MSUD, suggesting the disease is inherited in an autosomal recessive manner. Calves were clinically affected from birth, but there were variations in the subsequent course of progressive deterioration of central nervous system function. Concentrations of the branched chain amino acids and keto acids were elevated in pre-suckle plasma and cerebellar water content was higher in affected calves. Activity of BCKAD complex was minimal in fibroblasts cultured from an affected calf. Spongiform encephalopathy and elevated ratios of the branched to straight chain amino acids in formalin fixed cerebral tissue were found in a stillborn foetus and a 3-month-old Hereford calf. These findings suggest the disease occurs prenatally and that a delayed form may exist.     

Maple syrup urine disease as a cause of spongiform encephalopathy in calves

Estimates of branched chain amino acid concentrations in plasma and, or, serum, urine, cerebrospinal fluid, formalin-fixed cerebral tissue and the associated formalin, provided evidence for a diagnosis of branched chain keto acid decarboxylase deficiency in five polled Hereford calves. The similarity of the clinical signs of dullness, recumbency and opisthotonos, and the observation of severe status spongiosus within the central nervous system, indicated that this condition had probably affected seven other newborn calves. It is suggested that this condition is analogous to branched chain keto acid decarboxylase deficiency or maple syrup urine disease of children.     

Maple syrup urine disease in five hereford calves in ontario

Five newborn grade horned or polled Hereford calves in Ontario exhibited the clinical signs characteristic of hereditary neuraxial edema, namely, inability to rise, and hyperesthesia with extensor spasms upon tactile or auditory stimulation. Histologically, there was widespread spongy vacuolation in both white and gray matter in the brains of all five calves, especially in the midbrain, brain stem, and cerebellum. Amino acid analysis of formalin-fixed cerebral tissue of three calves demonstrated an amino acid composition consistent with a diagnosis of branched chain keto acid decarboxylase deficiency. This condition has been recently reported in Hereford calves in Australia; it is characterized by the delayed onset of neurological signs and severe lesions of status spongiosus, and has been considered analogous to maple syrup urine disease of children.     

Hereditary neuraxial oedema in a Poll Hereford herd

Cases of neuraxial oedema in a Poll Hereford herd were investigated and the pedigrees of affected calves determined. In all cases, and over no more than 3 generations, the pedigree led back to a common bull. Analysis of the herd breeding records supported an autosomal recessive mode of inheritance of the disease. Fractures of the femoral heads, acetabular cartilage and/ or bone, or both, were seen in some affected calves. This lesion was probably induced during birth or soon after, and the suggestion is made that such hip lesions could be regarded as highly suggestive of hereditary neuraxial oedmea of Herefords. The majority of calves showed clinical signs at birth, but 2 calves did not develop clinical signs until they were 2 days old.     

Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves

Congenital dyserythropoietic anaemia (CDA) is a heterogeneous group of rare genetic disorders that in humans is characterised by ineffective haematopoiesis with morphological abnormalities in erythroid precursor cells and secondary iron overload. In the 1990s, a syndrome of CDA with dyskeratosis and progressive alopecia was reported in Poll Hereford calves in Canada and the USA. We report the clinical and pathological findings in two Poll Hereford calves with this syndrome from separate properties in South Australia. The animals had a variably severe anaemia, associated with abnormal nucleated red blood cells in peripheral blood, and large numbers of rubricytes and metarubricytes with a characteristic nuclear ultrastructure in the bone marrow. Both calves were born with a wiry hair coat and a progressively ‘dirty‐faced’ appearance associated with hyperkeratosis and dyskeratosis (apoptosis).     

Status spongiosus of white matter in newborn Gelbvieh-cross calves.

Various forms of status spongiosus occur in neonatal cattle, the best characterized of which is due to mutations of the branched-chain alpha-keto acid dehydrogenase complex (BCKD), resulting in bovine maple syrup urine disease (MSUD, branched-chain ketoaciduria). A distinctive neurological syndrome was identified between 1998 and 2003 in 9 calves in a 250-cow stabilized Gelbvieh-Red Angus herd. Both sexes were affected (6 heifers, 3 bulls), with a low annual incidence (3 cases in 1998; no cases in 1999; 2 cases in 2000; 2 in 2001; 1 in 2002; 1 in 2003). Affected calves were born full-term, unable to stand, and had constant whole-body tremors when stimulated. Animals remained in lateral recumbency until death or euthanasia; the longest survival time was 10 days postpartum. The principal histological change in 2 affected calves was diffuse, moderately severe bilaterally symmetrical status spongiosus with Alzheimer type II cells throughout the white matter of the brain. Myelin deficits were not evident and vacuoles were due to cleaved myelin sheaths. Neither recognized mutation of MSUD was identified in the E1a subunit of BCKD in 2 affected calves, 8 dams that gave birth to affected calves, a grand-dam of 3 affected calves, or a sire of 1 calf. Amino acid analysis of serum from 1 affected calf revealed normal concentrations of branched-chain amino acids, indicating that this disease is distinct from MSUD. The genetic and biochemical basis for the disorder, provisionally named congenital status spongiosus of Gelbvieh-cross cattle, is undetermined. The pattern of inheritance was not established.     

Cardiomyopathy associated with a curly hair coat in Poll Hereford calves in Australia

Fifteen newborn Poll Hereford calves from five farms died over a three-and-a-half year period. From birth all calves had a tight, curly hair coat which was not observed on any other calves on these properties. All calves with this phenotype died before reaching six months of age. Seven of the 15 calves were noticed to have exercise intolerance, hyperpnoea and dyspnoea for one to seven days before death. The incidence of additional features of the curly hair coat phenotype is also described. Post mortem examinations conducted on the calves revealed focal, diffuse and pale fibrous streaking of the entire myocardium and vascular congestion of the livers, spleens and lungs. A primary cardiomyopathy was diagnosed on the basis of the clinical and pathological findings. Analysis of the pedigrees of seven affected calves from one farm demonstrated a common ancestor for all sires and dams of affected calves and suggested a simple autosomal recessive mode of inheritance of the syndrome as a reasonable hypothesis for future experimental testing.     

Life-cycle evaluation of Bos taurus and Bos indicus X Bos taurus breed types in a dry, temperate climate: performance of mature dams

Mature dams representing Hereford, Red Poll, F1 Hereford x Red Poll, F1 Red Poll x Hereford, F1 Angus x Hereford, F1 Angus x Charolais, F1 Brahman x Hereford and F1 Brahman x Angus breed types were evaluated. All cows were bred to Limousin sires to produce two-way or three-way-cross progeny. Mature Brahman x Hereford dams produced a higher (P less than .05) percentage of live calves than Herefords, but dam breed differences in percentage of calves weaned relative to the number of cows exposed for mating were not statistically significant. Progeny of Angus x Charolais and Red Poll dams were outstanding in weaning weight, but Hereford and Brahman-cross calves were below average. Planned comparisons showed that Angus x Charolais calves were heavier (P less than .01) at weaning than Hereford (23.0 +/- 3.8 kg) or Angus x Hereford (9.6 +/- 3.2 kg) progeny. Mature Angus x Hereford mothers weaned heavier calves than did Brahman x Herefords (7.4 +/- 3.2 kg, P less than .05) or Brahman x Angus (10.9 +/- 3.0 kg, P less than .01). Analysis of the Hereford-Red Poll diallel showed evidence of maternal heterosis in calf weaning weight (4.0 +/- 2.6 kg, P less than .05), but there was no difference in the percentage of calves weaned by crossbred vs straightbred dams.(ABSTRACT TRUNCATED AT 250 WORDS)     

Maternal characteristics of young dams representing Bos taurus and Bos indicus x Bos taurus breed types

Reproductive traits and preweaning growth of progeny from young Hereford, Red Poll, Hereford X Red Poll, Red Poll X Hereford, Angus X Hereford, Angus X Charolais, Brahman X Hereford and Brahman X Angus dams were evaluated. First-calf heifers were mated with Red Angus bulls; Santa Gertrudis sires were used for each cow's second and third breeding season. Herefords, Red Polls and Hereford-Red Poll crosses were below average in percentage of calves weaned, whereas Angus-sired and Brahman-sired dams exceeded the overall mean. Angus X Charolais (P less than .10), Brahman X Hereford (P less than .01) and Brahman X Angus (P less than .10) dams weaned a higher percentage of calves than straightbred Herefords. None of these breed types differed from young Angus X Hereford females in reproductive performance. Angus X Charolais calves ranked highest in 180-d calf weight, exceeding progeny from both Hereford (P less than .01) and Angus X Hereford (P less than .10) dams. Brahman X Hereford dams weaned heavier (P less than .05) calves than Herefords, but their progeny did not differ at weaning from those reared by Angus X Herefords. Calves from Brahman X Angus dams weighed 12.7 kg less (P less than .01) than Angus X Hereford progeny. Analysis of the Hereford-Red Poll diallel showed evidence of (P less than .10) maternal heterosis in 180-d calf weight.(ABSTRACT TRUNCATED AT 250 WORDS)     

Life span of beef-type Bos taurus and Bos indicus x Bos taurus females in a dry, temperate climate

Females representing Hereford, Red Poll, F1 Hereford x Red Poll, F1 Red Poll x Hereford, F1 Angus x Hereford, F1 Angus x Charolais, F1 Brahman x Hereford, and F1 Brahman x Angus breed types were evaluated from birth until 10 yr of age. Of 308 females born alive, 35.7% died or were culled because of injury, serious illness, or reproductive failure. Breed types differed (P less than .01) in total number of mating seasons per cow and total number of progeny born and weaned. Values for lifetime total number of calves weaned were as follows: Hereford, 4.54; Red Poll, 5.45; Hereford x Red Poll, 4.45; Red Poll x Hereford, 5.49; Angus x Hereford, 5.98; Angus x Charolais, 5.57; Brahman x Hereford, 6.96; and Brahman x Angus, 6.22. Brahman crosses (P less than .01) and Angus x Charolais (P less than .10) exceeded Hereford dams in lifetime total number of calves weaned but did not differ from Angus x Herefords. Analysis of the Hereford-Red Poll diallel showed no evidence of heterosis in life span traits. Results indicate that breed type was a major source of variation in reproductive life span of beef-type females. F1 Bos indicus crosses and Angus x Herefords were outstanding in longevity.     

Cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle: electrocardiographic findings in affected and unaffected calves

Electrocardiograms were recorded from 4 calves with cardiomyopathy and woolly haircoat syndrome (CWH), a lethal autosomal recessive trait of Poll Hereford cattle and from 9 unaffected calves. Electrocardiograms of calves with CWH were characterised by multifocal ventricular premature contractions which occurred singly, in pairs, in runs and as episodes of ventricular tachycardia. Bigeminal rhythms were recorded occasionally. The frequency of ventricular premature contractions ranged from 5 to 120.min-1. Ventricular premature contractions in calves with CWH were attributed to myocardial degeneration and fibrosis which were observed grossly and microscopically. Electrocardiograms in unaffected calves were characterised by normal sinus rhythm and by variation in the morphology of wave forms between animals. The durations of the various wave forms were less than those previously recorded from adult cattle.     

Growth patterns of Angus, Hereford and shorthorn cattle. II. Relationship of growth patterns of dams with progeny performance

Relationships between estimated growth curve parameters of dams and performance traits of their progeny were studied in Angus, Hereford and Shorthorn herds, each divided into four inbred and two noninbred lines. Growth curve parameters were calculated from the growth function Yt=A(1-Be-Kt), where Yt was weight at age t, A was estimated mature weight, B was an estimate related to early life weight changes and provided for a Y-intercept term and K was estimated general rate of maturing. Least-squares analyses of progeny variables were calculated separately for each breed and sex. Line differences did not influence any of the progeny variables except weaning type score of Shorthorn males (P less than .01). Birth year exerted a curvilinear effect on birth weights of Angus female progeny (P less than .01), a linear influence on 205-d weights of Shorthorn male progeny (P less than .05) and a curvilinear effect on weaning type scores of Angus and Shorthorn male progeny (P less than .01). Regression coefficients on weaning age indicated that calves born earlier in the calving season had lighter birth weights and that older calves at weaning received higher type scores. Inbreeding of the progeny negatively influenced (P less than .05) birth weights of Angus male and Hereford female progeny. Hereford male and Shorthorn female 205-d weights were negatively affected (P less than .05) by inbreeding, while weaning type scores of Shorthorn female progeny were negatively influenced (P less than .001) by inbreeding. Regression coefficients of all progeny variables on inbreeding in all analyses indicated negative trends.(ABSTRACT TRUNCATED AT 250 WORDS)     

Cerebellar abiotrophy in crossbred cattle

Cerebellar abiotrophy affected 9 of 74 calves sired by a Poll Hereford bull over 2 successive calving seasons. The disease was characterised by episodes of recumbency and ataxia, with hypermetria and wide base stance. Clinical signs commenced between birth and 8 months of age. Two calves which were affected first at 8 months of age recovered clinically 9 months later. Histological lesions were found in the cerebellar cortex of 7 calves and consisted of segmental degeneration and loss of Purkinje cells, and axonal swellings. The clinical signs and pathological findings were consistent with bovine familial convulsions and ataxia, which has not been described previously in Australia. The clinical signs were not attributable to the lesions observed in the cerebellum and an underlying electrophysiological abnormality is proposed. The aetiology of the condition is probably genetic and appears to have a multifactorial basis.     

Energy requirements for maintenance of crossbred beef cattle with different genetic potential for milk

Maintenance energy requirements were estimated in two gestation and one lactation feeding trials for three groups of cows. All cows in the second gestation trial completed the first gestation and lactation trials. The three groups were chosen to represent cattle similar in growth rate and mature size but different in amount of milk provided to their calves. The low (L) group included Hereford x Angus, the medium (M) group included Red Poll x Angus and the high (H) group included Milking Shorthorn x Angus cows. Cows were individually fed to maintain net body weight (minus gravid uterus for gestation) constant. Allowances were made in energy intake for gestation and lactation. Cow weights were adjusted to an average condition score in each trial. Daily maintenance requirements during gestation were 18% lower than those during lactation. The H and M cows required 12% more energy per unit metabolic weight than L cows to maintain body weight during both gestation and lactation. Differences in milk production explained 23% of the variation in maintenance requirements, suggesting that important differences exist beyond those associated with milk production potential. Repeatabilities of maintenance requirement measurements ranged from .44 to .64. Maintenance requirements for calves under feedlot conditions in the postweaning phase were estimated from data collected from 494 calves, half-sibs and offspring of the cows described previously. Energy requirements were 11% higher for the H and M groups than for the L group.     

Inheritance and interaction of immune traits in beef calves

Three sets of blood samples were obtained from beef calves of two experimental populations and assayed for various immunological measurements. The first set of samples was taken between 24 and 48 h after birth and quantified for IgG1 concentration. A second set was taken immediately prior to vaccination for infectious bovine rhinotracheitis virus (IBRV; at an average age of 164 d) and a third set taken 60 d post-vaccination. These later samples were quantified for antibodies specific to IBRV. Level of complement C3 was also quantified in the samples taken immediately prior to vaccination. Three hundred sixty-seven calves were from four Hereford lines; three lines were previously selected for growth traits and the fourth was a randomly selected control line. There were no consistent differences in immune traits among these lines. The second group of 165 animals were Angus, Hereford and Red Poll calves. While Angus calves had a higher mean IgG1 concentration at 24 to 48 h of age than Hereford or Red Poll calves, no differences among breeds were found for the other immune traits measured. Calves from older dams (greater than 3 yr old) tended to have higher mean IgG1 concentrations, pre-vaccination IBRV antibody titers and complement C3 levels than calves from 2- and 3-yr-old cows. However, these calves had lower 60-d post-vaccination IBRV titers than calves from the younger cows (P less than .05). As pre-vaccination IBRV antibody titer increased, post-vaccination IBRV antibody titer decreased (P less than .05).(ABSTRACT TRUNCATED AT 250 WORDS)     

A direct StyI polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test for the myophosphorylase mutation in cattle

Myophosphorylase deficiency in cattle is a muscle disease induced by a C-->T point mutation in codon 489 of the myophosphorylase gene, which until now has only been diagnosed in the Charolais breed. The disease seems to be inherited in an autosomal monogenic recessive manner. A calf of double muscled phenotype was suspected of suffering from myophosphorylase deficiency based on typical symptoms, i.e. brown-coloured, transparent urine, occurring after exercise; exercise intolerance; symptoms of pain; and an elevated level of plasma creatine kinase. The presence of the previously described mutation was excluded using a newly developed, improved polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) procedure to identify easily heterozygous carriers and homozygous affected animals.     

Biological efficiency to weaning and to slaughter of crossbred beef cattle with different genetic potential for milk

Biological efficiency of beef production to weaning and to slaughter was estimated in three groups of cattle reasonably similar in growth and mature size but different in the amount of milk available to the calves (low (L) = Hereford x Angus, medium (M) = Red Poll x Angus and high (H) = Milking Shorthorn x Angus). Efficiency was defined as the ratio of estimated kilograms of calf weight weaned or carcass weight produced by a herd of 100 first-cross cows to estimated metabolizable energy (ME) intake by the cows and preweaning non-milk ME intake by the calves or preweaning non-milk and postweaning ME intake by the calves. Efficiencies were estimated assuming observed and average reproductive rates, and using observed energy requirements for maintenance, as well as the same requirements for maintenance in the M and H groups. With the observed reproductive rates and requirements for maintenance, efficiencies to weaning and to slaughter were 28.1, 27.4 and 27.4 g weaning weight per Mcal ME and 22.0, 20.6 and 20.3 g carcass weight per Mcal ME for the L, M and H groups, respectively. With average requirements for maintenance, efficiencies were 28.2 and 27.5 to weaning and 20.8 and 20.4 to slaughter for the M and H groups, respectively. Under equal reproductive rates and observed maintenance requirements, efficiencies were 28.3, 27.2 and 27.7 to weaning, and 22.1, 20.6 and 20.6 to slaughter for the L, M and H groups, respectively. With average maintenance requirements, efficiencies were 27.5 and 27.4 to weaning and 20.7 and 20.5 to slaughter for the M and H groups, respectively. Across the production output and input assumption scenarios, the L group consistently was the most efficient, especially when evaluated at slaughter of calves.     

Spastic paresis in a Poll Hereford heifer

A case of unilateral spastic paresis in a Poll Hereford heifer is described. The heifer could not actively flex the right stifle or hock and the toe just contacted the ground. There was cranial distortion and collapse of the distal tibial epiphysis and remodelling of the articular surfaces within the stifle and hock. There was moderately severe muscle atrophy, but a primary peripheral or central neuropathological lesion could not be found.